Genes neurofibromatosis 1. Medical search. Frequent questions

Given the highly penetrant nature of NF1, individuals who have an altered NF1 gene will eventually present with some clinical feature of this neurocutaneous syndrome and are at an increased risk of developing benign and/or malignant tumors. (medscape.com)
Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. (medlineplus.gov)
Most adults with neurofibromatosis type 1 develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. (medlineplus.gov)
Some people with neurofibromatosis type 1 develop cancerous tumors that grow along nerves. (medlineplus.gov)
People with neurofibromatosis type 1 also have an increased risk of developing other cancers, including brain tumors and cancer of blood-forming tissue ( leukemia ). (medlineplus.gov)
Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1. (medlineplus.gov)
Neurofibromatosis type 1 (NF-1) is a condition characterized by changes in skin pigmentation and the growth of tumors along nerves in the skin, brain, and other parts of the body. (nih.gov)
Individuals with NF1 whole- gene deletions, large or growing plexiform neurofibromas or intracranial tumors, symptomatic vascular disease, progressive osseous lesions, or other serious disease manifestations require more frequent targeted follow up. (nih.gov)
Transcription factors, proteins that bind to the regulatory sequences of target genes, compose the largest class of oncogenes identified in pediatric tumors. (medscape.com)
Pheochromocytoma and paraganglioma are rare catecholamine-producing tumors with a combined annual incidence of three cases per 1 million individuals. (cigna.com)
Patients with cluster 1 tumors develop multiple and recurrent tumors that have the potential for metastatic spread, particularly for patients with SDHA and SDHB mutations. (cigna.com)
Biallelic mutations in these genes have been reported for a limited number of cases resulting in hematological malignancies, brain tumors and gastrointestinal tumors early in childhood. (nih.gov)
Our data suggest considering biallelic mutations in MMR genes for patients who develop HNPCC-associated tumors at an unusually young age of onset, even without hematological or brain malignancies. (nih.gov)
The Gilbert Family Foundation has invested $10 million in funding to researchers at Children's Hospital of Philadelphia, which houses one of the oldest and foremost neurofibromatosis clinics in the United States, to accelerate scientific understanding and development of therapies for tumors associated with neurofibromatosis type 1 (NF1). (chop.edu)
Usually diagnosed during childhood, a change in the NF1 gene causes the disease and can lead to the formation of both benign and malignant tumors throughout the body. (chop.edu)
Neurofibromatosis type 1 (NF1) is a rare genetic disorder, characterized by the development of benign and malignant nerve tumors. (jci.org)
Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of tumors of the central or peripheral nervous system including the brain, spinal cord, organs, skin, and bones. (mdpi.com)
Commonly referred to as NF, neurofibromatosis is a condition that causes tumors to form on nerves anywhere in the body. (nfnetwork.org)
Patients with neurofibromatosis type 1 (NF1) have a high risk to develop benign or malignant tumors of neurogenic or non-neurogenic origin. (longdom.org)

The NF1 gene product is a cytoplasmic protein called neurofibromin 1, which appears to have diverse functions in many different tissues. (medscape.com)
Although not all functional aspects of neurofibromin 1 are known, it does activate ras -GTPase. (medscape.com)
[ 3 ] The neurofibromin 1/ ras -GTPase connection has roles in the control of cell proliferation and the suppression of cell overgrowth. (medscape.com)
The NF1 phenotype results from loss-of-function mutations of the NF1 gene and, therefore, the absence of neurofibromin 1. (medscape.com)
Most variants involve sizable truncation of neurofibromin 1, often due to alteration of messenger ribonucleic acid (mRNA) splicing. (medscape.com)
The gene protein product - neurofibromin plays an important role in tumor genesis as a tumor-suppressor gene. (ajol.info)
The NF1 gene provides instructions for making a protein called neurofibromin. (medlineplus.gov)
Mutations in the NF1 gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division. (medlineplus.gov)
Sequencing of the neurofibromin gene offers the highest detection rate and may approach 95% in clinically affected individuals. (medscape.com)
In a genome-wide functional screen in the yeast Saccharomyces cerevisiae, inactivation of IRA2, a yeast ortholog of the human tumor suppressor gene NF1 (Neurofibromin), enhanced sensitivity to hydroquinone, an important benzene metabolite. (nih.gov)
Although the NF1 gene was cloned in 1990, the cellular functions performed by the huge, multi-domain protein encoded by the gene, and called neurofibromin, are still incompletely understood. (news-medical.net)
Neurofibromatosis type 1 (NF1) is a relatively common single-gene disorder, and is caused by heterozygous mutations in the NF1 gene that result in a loss of activity or in a nonfunctional neurofibromin protein. (dovepress.com)
2 , 3 The NF1 gene encodes the neurofibromin, a 250 kDa cytoplasmic protein with a centrally positioned Ras-specific guanosine triphosphatase-activating domain that acts as a negative regulator of Ras/mitogen-activated protein kinase, which has a cardinal role in mitogenic intracellular signaling pathways. (dovepress.com)
We focus on neurofibromatosis type 1 (NF1), an autosomal dominant disorder that affects about one in 3,000 individuals due to mutations in the NF1 gene, whose protein product neurofibromin is a negative regulator of Ras-MAPK signaling. (cincinnatichildrens.org)
NF1 is caused by a mutation in the NF1 gene, which codes for neurofibromin, a large protein involved in the MAPK- and the mTOR-pathway through RAS-RAF signalling. (prinsesmaximacentrum.nl)
The NF1 gene is located on chromosome 17q11.2, which encodes for a tumor suppressor protein, neurofibromin, that functions as a negative regulator of Ras/MAPK and PI3K/mTOR signaling pathways. (mdpi.com)

The variability of the NF1 phenotype, even in individuals with the same NF1 gene mutation, suggests that other factors are involved in determining the clinical manifestations, but the nature of these factors has not yet been determined. (nih.gov)
The diagnosis of neurofibromatosis type 1 (NF1) is usually made clinically, however, molecular testing may be helpful for younger patients with a single clinical finding, such as multiple café-au-lait spots in the absence of a positive family history. (medscape.com)
Neurofibromatosis refers to several related disorders that have overlapping clinical manifestations but that are now understood to have distinct genetic causes. (msdmanuals.com)
however, the clinical picture is different, and the genes involved are distinct. (msdmanuals.com)
In the anonymous cohort, 1.9% of patients with the clinical diagnosis of neurofibromatosis type 1 actually had Legius syndrome. (medscape.com)
Such information is vital to help guide clinical management and genetic counseling in this complex disease that can be caused by more than 3,000 different mutations found in every part of this large NF1 gene. (news-medical.net)
To look for correlations, Messiaen and her team collect detailed clinical information on all symptoms found in each of the neurofibromatosis individuals who had their mutation identified through clinical testing at the UAB Medical Genomics Laboratory. (news-medical.net)
The kaleidoscope of clinical signs in neurofibromatosis type 1 is mirrored by an abundance of different mutations in the NF1 gene. (news-medical.net)
These tumor phenotypes are frequently associated with café-au-lait spots (CALS), one of the clinical hallmarks of neurofibromatosis type 1 (NF1). (nih.gov)
Cambiaghi et al detailed the clinical features and natural history of juvenile xanthogranuloma (JXG) in 14 children affected by NF-1. (aad.org)
1 Recently, developmental screening instruments and their clinical interpretations have emphasized the early detection of delays in language and social development, responsive to rising prevalence rates of autism spectrum disorders in US children. (aap.org)
Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and additional features, which has allowed classification by genotype. (go.jp)
Although all individuals with NF1 harbor genetic alterations in the same gene, the clinical manifestations of NF1 are extremely heterogeneous even among individuals who carry identical genetic defects. (jci.org)
Clinical overlap between both syndromes, neurofibromatosis-Noonan syndrome (NFNS) is well known. (mssm.edu)
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, associated with a variable clinical phenotype including café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic pathway gliomas and distinctive bony lesions. (prinsesmaximacentrum.nl)
Tanito K, Ota A, Kamide R, Nakagawa H, Niimura M. Clinical features of 58 Japanese patients with mosaic neurofibromatosis 1. (medscape.com)
Clinical features of neurofibromatosis type 1. (longdom.org)

[ 1 ] Patients with NF1 who have a whole NF1 gene deletion (about 4-5% of individuals with NF1) appear to develop a more severe phenotype than do patients with a partial gene deletion. (medscape.com)
The NF1 phenotype is highly penetrant (ie, almost all individuals with an NF1 gene mutation have some phenotypic traits of the syndrome). (medscape.com)
Is the phenotype modulated by modifying genes? (nih.gov)
The disease history resembles the HNPCC phenotype rather than a phenotype associated with biallelic MMR gene mutations. (nih.gov)
Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing. (cdc.gov)

Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. (nih.gov)
E ditor -Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an autosomal dominant neurocutaneous disease characterised by café au lait spots and neurofibromas. (bmj.com)
High-resolution 400K oligonucleotide array comparative genomic hybridization analysis of neurofibromatosis type 1-associated cutaneous neurofibromas. (cdc.gov)
Physical examination at admission found a patient in good general condition, presenting a large and supple scar at the occipital level, measuring 13 cm ( Figure 3A ) and signs of type 1 neurofibromatosis, including multiple coffee-to-milk spots, axillary and inguinal lentigines, cutaneous neurofibromas ( Figures 3B-3D ) as well as multiple lish nodules on ophthalmological examination. (longdom.org)

Schwannomatosis, a rare disorder, is classified as a 3rd type of neurofibromatosis. (msdmanuals.com)
NF2-related schwannomatosis was formally known as neurofibromatosis type 2. (pulsenotes.com)
Type 1 usually appears in childhood, while type 2 and Schwannomatosis appear in early adulthood. (nfnetwork.org)

Neurofibromatosis type 1 is an autosomal dominant disorder that affects approximately 1 in 3000 individuals worldwide. (medscape.com)

A cascade effect occurs when ras -GTPase is "switched on" by incoming signals, leading to activation of other proteins, which, in turn, activate genes responsible for cell growth and differentiation. (medscape.com)
Mutations in ras genes can cause permanent activation of ras proteins. (medscape.com)
A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex. (wikipedia.org)
Tumor suppressor genes encode proteins that normally provide negative control of cell proliferation. (medscape.com)
S. cerevisiae genes IRA1 and IRA2 encode proteins that may be functionally equivalent to mammalian ras GTPase activating protein. (wikidata.org)

Mutations in the NF1 gene cause neurofibromatosis type 1. (medlineplus.gov)
It is unclear how mutations in the NF1 gene lead to the other features of neurofibromatosis type 1, such as café-au-lait spots and learning disabilities. (medlineplus.gov)
More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. (nih.gov)

The incidence of sporadic MPNSTs is low, with a lifetime risk of 0.001% [ 2 , 3 ] but in association with the familial condition neurofibromatosis type 1 (NF1), where these tumours often arise from malignant transformation of a plexiform neurofibroma, the incidence is much higher. (hindawi.com)
In 15% of cases, this type is familial and related to a germline mutation in the SMARCB1 gene, a tumor suppressor gene located at 22q11.23, very close to the NF2 gene. (msdmanuals.com)
Of the 94 probands with familial café au lait macules with or without freckling and no other features, 73% had a neurofibromatosis type 1 mutation, and another 19% had a SPRED1 mutation. (medscape.com)
Familial cases are associated with mutations in CCM1[K-Rev interaction trapped 1 (KRIT1)], CCM2 (MGC4607) and CCM3 (PDCD10) genes. (keyopinionleaders.com)
Familial café au lait spots: a variant of neurofibromatosis type 1. (medscape.com)

We identified three hub genes as independent molecular markers to predict the prognosis of patients with IPF and constructed a prognostic model that may be helpful in promoting therapeutic gains for IPF patients. (medsci.org)
The Robinson Lab is interested in recruiting motivated individuals with strong computational skills to work on systems neuroscience projects, as well as molecular biologists interested in gene therapy efforts. (cincinnatichildrens.org)

Although patients with neurofibromatosis type 1 (NF1) can be cared for in the primary care setting, additional medical concerns need to be addressed on a routine basis. (medscape.com)
In the remaining cases, the genetic basis is not well-understood, but in tissue from some patients, other mutations in the same gene are involved. (msdmanuals.com)
The first population based study of NF1 was performed in Sweden by Samuelsson 6 in 1981, who found 74 adult NF1 patients in the Gothenburg region, implying a prevalence of 1/4600. (bmj.com)
In 1989, Huson et al 4 discovered 135 NF1 patients in 69 families in south east Wales, 83 of whom were index cases and 52 affected relatives, with a prevalence of 1/4150. (bmj.com)
In patients with café au lait macules, neurofibromatosis should be analyzed first and, if negative, SPRED1 testing considered ( photo by Andreas Werle ). (medscape.com)
It is a message they want all clinicians involved in the care, diagnosis, and treatment of patients with neurofibromatosis to understand. (medscape.com)
We recommend that neurofibromatosis should be analyzed first and, if negative, SPRED1 testing should be considered in patients with café au lait macules with or without freckling and no other diagnostic features," write the researchers. (medscape.com)
Patients had more than 5 café au lait macules with or without freckling or a family history of neurofibromatosis. (medscape.com)
Finding these correlations is important because whether patients will have mild or severe disease cannot -- in most cases -- be predicted when the neurofibromatosis type 1 first appears, often only with café-au-lait skin markings in infants. (news-medical.net)
The UAB Medical Genomics Laboratory has collected DNA and identified a pathogenic mutation on the more than 8,100 unrelated neurofibromatosis type 1 patients. (news-medical.net)
We downloaded microarray data of bronchoalveolar lavage cells from the Gene Expression Omnibus (GEO), containing 176 IPF patients and 20 controls. (medsci.org)
Moreover, based on the risk model, we divided IPF patients into high-risk and low-risk groups to determine the biological functions and immune cell subtypes associated with the prognosis of IPF using gene set enrichment analysis and immune cell infiltration analysis. (medsci.org)
1 ] About 70% of patients with pheochromocytoma and paraganglioma can be assigned to one of these clusters. (cigna.com)
Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1]. (cdc.gov)
Mean follow-up in 11 of these patients was 4.3 years (range 1-10 years). (aad.org)
They identified 739 patients with NF-1 over a 20-year period, 14 of whom also had a diagnosis of malignancy. (aad.org)
If you are a minimalist, you can heed the advice provided by the commentary by Burgdorf and Zelger, who state: "there is no evidence that routine screening for JMML is of any benefit in patients with NF-1. (aad.org)
In my opinion, patients with NF-1 need monitoring for several malignancies over the course of their lifetime. (aad.org)
Neurobiology research from UCLA indicates the possibility of GABA interfering with working memory in patients with neurofibromatosis type 1, or NF1. (neurosciencenews.com)
Patients with an underlying genetic predisposition (e.g. variant in the NF2 gene) are at increased risk of developing acoustic neuromas and discussed in more detail below on neurofibromatosis. (pulsenotes.com)
A few neurofibromatosis type 2 patients have been diagnosed with over 25 cervical lesions. (amjcaserep.com)

Neurofibromatosis type 1 (NF1), also known as peripheral neurofibromatosis or von Recklinghausen disease, is an autosomal dominant genetic condition caused by a mutation in or a deletion of the NF1 gene. (medscape.com)
1 Centers for Disease Control and Prevention, Division of Birth Defects and Developmental Disabilities, Atlanta, GA 30341, USA. (nih.gov)
Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. (nih.gov)
RESEARCH OBJECTIVES Neurofibromatosis 1 (NF1), or von Recklinghausen's disease, is an autosomal dominant inherited disorder affecting the central and peripheral nervous system. (nih.gov)
The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane. (wikipedia.org)
Neurofibromatosis type 1 (NF1, or von Recklinghausen disease) is most prevalent, occurring in 1 of 2500 to 3000 people. (msdmanuals.com)
Research led by Ludwine Messiaen, Ph.D., professor of genetics at the University of Alabama at Birmingham, shows that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe symptoms of the genetic disease neurofibromatosis type 1. (news-medical.net)
1 Caused by an inactivating mutation in the NF1 gene on chromosome 17 (17q11.2), the disease is associated with increased morbidity and mortality. (dovepress.com)
Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive interstitial lung disease (ILD) characterized by unexplained lung's scarring and extensive remodeling [ 1 , 2 ] . (medsci.org)
Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is one of the most common neurocutaneous genetic disorders. (go.jp)

Although most people with neurofibromatosis type 1 have normal intelligence, learning disabilities and attention-deficit/hyperactivity disorder (ADHD) occur frequently in affected individuals. (medlineplus.gov)
in the NF1 gene and occur in people with no history of the disorder in their family. (medlineplus.gov)
Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF1 gene must be altered to trigger tumor formation in neurofibromatosis type 1. (medlineplus.gov)
Neurofibromatosis 2 (NF2), or bilateral acoustic neurofibromatosis, is an autosomal dominant disorder associated with vestibular schwannomas and other schwannomas, meningiomas, ependymomas, gliomas, and posterior subcapsular cataracts. (nih.gov)
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder that segregates with microsatellite markers at γ-sarcoglycan gene. (wikipedia.org)
Neurofibromatosis is not a single medical disorder. (nih.gov)
The gene responsible for the disorder is located in the chromosome region 17q11.2. (bmj.com)
Neurofibromatosis type 1 is a common genetic disorder with highly variable symptoms, and it occurs in one out of every 2,000 to 3,000 births. (news-medical.net)
Neurofibromatosis type 1 (NF1) is another autosomal dominant disorder characterized by hamartomas in multiple organs. (mssm.edu)

RB1 encodes the protein pRB and was the first tumor suppressor gene to be molecularly defined. (medscape.com)
The NF1 gene encodes a GAP-related protein, which acts as a negative regulator of the Ras-mediated signal transduction pathway. (mssm.edu)
The NF2 gene is identified on chromosome 22q12, which encodes for merlin, a tumor suppressor protein related to ezrin-radixin-moesin that modulates the activity of PI3K/AKT, Raf/MEK/ERK, and mTOR signaling pathways. (mdpi.com)
The NF2 gene encodes the protein merlin, which acts as a tumour suppressor gene. (pulsenotes.com)
IRA2, a second gene of Saccharomyces cerevisiae that encodes a protein with a domain homologous to mammalian ras GTPase-activating protein. (wikidata.org)

The NF1 gene is cytogenetically located on the long (q) arm of chromosome 17, at band 11.2 (17q11.2). (medscape.com)
In a family with multiple affected members, linkage analysis can track the NF1 gene through the generations to determine which chromosome 17 region the fetus received. (medscape.com)
The NF1 gene on chromosome 17 has been cloned. (nih.gov)

Sarcoglycanopathies are autosomal recessive limb girdle muscular dystrophies (LGMDs) caused by mutations in any of the four sarcoglycan genes: α (LGMD2D), β (LGMD2E), γ (LGMD2C) and δ (LGMD2F). (wikipedia.org)
The pigmentary signs often fool clinicians, but investigators explain that Legius syndrome is genetically distinct and caused by mutations in the SPRED1 gene. (medscape.com)

Scientific reports 2022 6 12 (1): 9543. (cdc.gov)
Pediatrics 2022 2 1-9. (cdc.gov)
Genes, chromosomes & cancer 2022 11 62 (3): 131-138. (cdc.gov)

Neurofibromatosis type 1 (NF1) and type 2 (NF2) are neurocutaneous disorders inherited as autosomal dominant genetic syndromes. (medscape.com)

Neurofibromatosis is a neurocutaneous syndrome (a syndrome with neurologic and cutaneous manifestations). (msdmanuals.com)
Neurologists should be aware that Legius syndrome can resemble neurofibromatosis type 1, Ludwine Messiaen, PhD, from the University of Alabama at Birmingham, told Medscape Neurology . (medscape.com)
Neurologists should be aware that Legius syndrome can resemble neurofibromatosis type 1, report investigators led by Ludwine Messiaen, PhD, from the University of Alabama at Birmingham. (medscape.com)
This report describes a very unusual case of fusiform aneurysms of both ICAs in a Caucasian NF1 patient, with a new pathogenic intragenic heterozygous deletion of the NF1 gene, presenting at age 22 years with Tolosa-Hunt syndrome, because of partial thrombosis of the left giant intracavernous aneurysm. (dovepress.com)
Heterozygous germline mutations in the human mismatch repair (MMR) genes MLH1, PMS2, MSH2 and MSH6 predispose to the hereditary non-polyposis colorectal cancer (HNPCC) syndrome. (nih.gov)
A genetic syndrome is a set of symptoms or conditions that occur together and is usually caused by abnormal genes. (peacehealth.org)
Genetic analysis of two children with sporadic neurofibromatosis type 1 complicated with nephrotic syndrome]. (cdc.gov)
Neurofibromatosis 1 (NF1), a cancer predisposition syndrome, is a valuable platform for understanding the interaction between neurons and neoplastic cells. (mdanderson.org)
Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. (medscape.com)

Autosomal dominant genetic transmission indicates that one copy of the altered gene is required for phenotypic expression. (medscape.com)
7. Debrisoquine oxidation polymorphism: phenotypic consequences of a 3-base-pair deletion in exon 5 of the CYP2D6 gene. (nih.gov)

Over 1000 pathogenic allelic variants of the gene have been identified. (medscape.com)
Recently, however, pathogenic mutations of VANGL1 and VANGL2 genes have been associated with some cases of human NTDs. (keyopinionleaders.com)

14. Variants in the prostate-specific antigen (PSA) gene and prostate cancer risk, survival, and circulating PSA. (nih.gov)
Three alternatively spliced variants of mTid-1 were isolated, two of which correspond to the recently identified hTid-1(L) and hTid-1(S) forms of the human TID1 gene that exhibit opposing effects on apoptosis. (embl.de)

For individuals diagnosed with neurofibromatosis type 1 (NF1), routine examinations should focus on the potential complications. (medscape.com)

Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene. (wikipedia.org)

Neuroscience research published in September's Journal of Neuroscience suggests early life stresses may modify the GAD1 gene, which controls the production of GABA. (neurosciencenews.com)

1/3000. (ajol.info)

Although many people with NF1 inherit the gene that causes the condition, between 30 and 50 percent of cases arise from a spontaneous genetic mutation in the NF1 gene. (nih.gov)
But not only did Elaina have optic pathway glioma, the root cause was neurofibromatosis type 1, a genetic mutation of a tumor-suppressing gene. (stjude.org)

Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
In chapter 5 we studied one of the most common single-gene disorders affecting cognitive function in human, neurofibromatosis type 1 (NF1). (eur.nl)
Neurofibromatosis (NF1) represents the most common single gene cause of learning disabilities. (escholarship.org)
The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. (mousephenotype.org)

As opposed to the truncating mutations, the 28 (10.1%) missense or single-amino-acid-deletion mutations identified clustered in two distinct regions, the GAP-related domain (GRD) and an upstream gene segment comprising exons 11-17. (nih.gov)
A missense mutation is a change in one nucleotide in DNA that results in a codon for a different amino acid in the protein made by the gene. (news-medical.net)

These tumours account for up to 10% of all soft tissue sarcomas [ 1 ] and are associated with poor prognosis unless wide excision of the tumour is undertaken before local invasion or distant metastasis can occur. (hindawi.com)
Wang E, Wang Y, Zhou S, Xia X, Han R, Fei G, Zeng D, Wang R. Identification of three hub genes related to the prognosis of idiopathic pulmonary fibrosis using bioinformatics analysis. (medsci.org)
We used Lasso Cox regression and multivariate Cox regression to search for hub genes related to prognosis from the differentially expressed genes (DEGs) in the prognostic modules and constructed a risk model and nomogram accordingly. (medsci.org)

Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide. (medlineplus.gov)
Von Recklinghausen neurofibromatosis or neurofibromatosis type 1 (NF1), is one of the most common autosomal dominant conditions affecting the nervous system, occurring with an estimated incidence of one in 2,500-3,000 individuals independent of ethnic group, race, and sex. (dovepress.com)

When disinhibited by the mutation of the NF1 gene, the ras oncogene may cause tumor formation. (nih.gov)
A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1. (cdc.gov)
Background: Neurofibromatosis 1 (NF1) is a clinically heterogeneous genetic condition caused by the mutation of the NF1 gene. (eurospe.org)

o Basic studies of neurodevelopmental mechanisms affected by neurofibromatosis such as neural crest cell migration and differentiation. (nih.gov)

Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules. (medscape.com)

They had a broad range of signs typically found in neurofibromatosis type 1 but no detectable germline mutation. (medscape.com)

A number of studies have compared survival in sporadic and NF1-associated tumours [ 1 , 4 - 9 ] but no consensus has been reached on whether NF1 is an independent poor prognostic factor or not. (hindawi.com)

The prevalence of clinically diagnosed NF1 ranges from 1/2,000 to 1/5,000 in most population-based studies. (nih.gov)
Its prevalence is about 1 in 4,000. (nih.gov)
Its prevalence is about 1 in 40,000. (nih.gov)
The prevalence of NF1 has been estimated to be about 1/3500 in the USA and the United Kingdom, 1-3 and its birth incidence has been reported to vary from 1/2558 4 to 1/4292, 5 the mutation rate being 3.1 × 10 -5 to 6.5 × 10 -5 . (bmj.com)
The highest estimated prevalence for NF1, 1/2190, has been reported in Dunedin, New Zealand, by Fuller et al , 7 who also showed that the prevalence peaked in the age group 20-29 years. (bmj.com)
A fourth report from north east Italy by Clementi et al 5 quoted a prevalence of 1/6711 and a very high mutation rate of 6.5 × 10 -5 gametes per generation. (bmj.com)
There has been a rise in discovery, with a prevalence of 1/100 000 in 2005 and screening by advancements in technology, which leads to earlier treatment [5]. (amjcaserep.com)

The top 5,000 genes in the median absolute deviation were classified into different color modules using weighted gene co-expression network analysis (WGCNA), and the modules significantly associated with both survival time and survival status were identified as prognostic modules. (medsci.org)

They suggest that a SPRED1 mutation may relieve a psychological burden from families who otherwise would be waiting for potential serious neurofibromatosis-associated manifestations. (medscape.com)

Group A: All affected individuals in a family who are post-pubertal male and female individuals and who meet the 1988 NIH criteria for neurofibromatosis type 1 (NIH Consensus Development Conference 1988). (nih.gov)
De Schepper S, Boucneau J, Vander Haeghen Y, Messiaen L, Naeyaert JM, Lambert J. Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? (medscape.com)

This new study is just the fourth clinically relevant association between specific mutations and specific symptoms that have been discovered for neurofibromatosis type 1. (news-medical.net)

These mutations showed even distribution over the whole gene from exon 1 to exon 47. (nih.gov)

We report A 7-year-old male with multiple café au lait spots diagnosed with Neurofibromatosis in Kigali-Rwanda by using next-generation sequencing and copy number variation analysis, the patient presented with painless nodular skin lesions that first developed 4 years earlier. (ajol.info)
For a parent with NF1 who is the only affected family member, gene sequencing can be used to identify a specific gene mutation. (medscape.com)
Tumor and Constitutional Sequencing for Neurofibromatosis Type 1. (cdc.gov)

They also have a high predisposition to develop malignancies, compared with the general neurofibromatosis population. (news-medical.net)
1] Mutations found in pediatric malignancies can be categorized broadly into driver mutations and passenger mutations. (medscape.com)
Driver events in pediatric malignancies can occur through loss of function in tumor suppressor genes or gain of function in proto-oncogenes. (medscape.com)

Loss of function of the NF1 gene results in overactivation of the RAS/MAPK pathway, leading to neurocutaneous manifestations and osseous abnormalities. (go.jp)

Multidisciplinary and collaborative studies of neurofibromatosis are encouraged. (nih.gov)

Neurofibromatosis (NF) is a genetic condition, which is divided into three main types based on the underlying genetic variant. (pulsenotes.com)

The NF1 gene locus has a higher spontaneous mutation rate than do most gene loci. (medscape.com)
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. (wikidata.org)

The neurocognitive symptoms of neurofibromatosis type 1 (NF1) include impaired executive function, attention and spatial learning. (cincinnatichildrens.org)

There are three options for managing a vestibular schwannoma: (1) surgical removal, (2) radiation, and (3) observation. (nih.gov)

Anatomy5

Diseases40

Chemicals and Drugs2

Analytical, Diagnostic and Therapeutic Techniques and Equipment4

Psychiatry and Psychology1

Phenomena and Processes7

Tumors19

Neurofibromin16

Clinical17

Phenotype5

Neurofibromas4

Schwannomatosis3

Autosomal dominant disorder that affects1

Proteins5

Mutations in the NF1 gene3

Familial5

Molecular2

Patients21

Disease10

Disorder9

Encodes5

Chromosome 173

Caused by mutations2

20223

Syndromes1

Syndrome9

Phenotypic2

Pathogenic2

Variants2

Complications1

Humans1

Neuroscience1

30001

Genetic mutation2

Single gene4

Missense2

Prognosis3

3,0002

Mutation of the NF1 gene3

Neurodevelopmental1

Macules1

Germline1

Sporadic1

Prevalence7

5,0001

SPRED11

Individuals2

Clinically1

Exon1

Sequencing3

Malignancies3

Manifestations1

Multidisciplinary1

Variant1

Locus2

Symptoms1

Vestibular1