Pathogenic mutation missense. Medical search. Frequent questions

In this context, we developed a computational approach aimed at evaluating the potential pathogenic effect of hRPE65 missense variants located on the dimerisation domain of the protein. (unipi.it)
In 5-10%, the variants are inherited (typically missense mutations), and the considered diagnosis is thus part of the genetic epilepsy with febrile seizures-plus (GEFS+) spectrum. (hindawi.com)
A minority of DS patients might have pathogenic variants in other genes such as PCDH19 , SCN1B , SCN8A , HCN1 , GABRA1 , and GABRG2 [ 5 ], and other pathologies close to DS might then be considered as differential diagnosis. (hindawi.com)
We show that uORF variants introducing new stop codons, or strengthening existing stop codons, are under strong negative selection comparable to protein-coding missense variants. (nature.com)
We investigated a panel of 34 known high/moderate-risk cancer genes, including 16 related to breast or ovarian cancer (BC/OC) genes, and 63 candidate genes to BC/OC in 192 clinically suspicious of hereditary breast/ovarian cancer (HBOC) Spanish families without pathogenic variants in BRCA1 or BRCA2 (BRCA1/2). (cancerindex.org)
Pathogenic variants (mutations) in the Abelson helper integration site 1 ( AHI1 ) gene are known to be associated with Joubert syndrome, a developmental disorder causing visual, cognitive and motor deficits. (bmj.com)
In this study, we show that some pathogenic variants in the AHI1 gene can cause visual impairment, without other symptoms or signs suggestive of Joubert syndrome. (bmj.com)
NGS is fast, scalable, reliable and could reveal putative pathogenic variants. (sun.ac.za)
Looking at loss-of-function variants and their role in human disease, in fact the majority of rare genetic disorders described to date result from loss-of-function pathogenic variants, that may partially or completely inactivate the gene product. (hstalks.com)
Smaller genetic variants (such as nonsense and frameshift mutations that result in a premature stop codon) can result in disease by producing proteins that lack key functional domains, or they may result in nonsense-mediated mRNA decay, so that no protein is produced from the mutated allele. (hstalks.com)
The effect of pathogenic missense variants can be variable, they may have a loss-of-function effect because the missense substitution impairs the structure or function of a key functional domain in the protein. (hstalks.com)
FATHMM-MKL is an algorithm which predicts the functional, molecular and phenotypic consequences of protein missense variants using hidden Markov models. (sanger.ac.uk)
The COL4A5, COL4A3, and COL4A4 genes have 53, 52, and 48 exons, respectively, and it is estimated that only 10% of all possible pathogenic COL4A5 variants have been reported (Gubler et al. (researchsquare.com)
These mutations can include insertions/deletions (indels), loss of heterozygosity (LOH), single nucleotide variants (SNVs), copy number variations (CNVs), and fusion genes. (galaxyproject.org)
While evaluating variants no matter what the origin, it is important to distinguish between variants that are pathogenic (i.e., causative) for a disease and a variant that may be predicted to be disruptive/damaging to the protein for which it codes, but is not necessarily implicated in a disease. (goldenhelix.com)
The ACMG Guidelines provide two sets of criteria: one for classification of pathogenic or likely pathogenic variants (Chapter 2) and one for classification of benign or likely benign variants (Chapter 3). (goldenhelix.com)
Such variants should only be considered if they are upstream from at least one pathogenic LoF variant from a reputable source such as ClinVar or an internal database. (goldenhelix.com)
PM3 This criterion is applied to all variants observed in trans with a pathogenic variant, which is another variant in the individual on a different haplotype for the associated recessive gene. (goldenhelix.com)
Thusberg J, Olatubosun A, Vihinen M. Performance of mutation pathogenicity prediction methods on missense variants. (lu.se)
This report thus expands the spectrum of disease-causing variants in the KAT6A gene to also include missense variants in this gene. (centogene.com)
We here report the first inherited variant in KAT6A and suggest missense variants in KAT6A to be associated with an inheritable, milder clinical presentation compared to previously reported de novo, truncating mutations in this gene. (centogene.com)
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. (cdc.gov)
Approximately two thirds of cases of EKVP are caused by heterozygous missense variants in the connexin genes GJB3, encoding connexin-31 (Cx31), and GJB4, encoding connexin-30.3 (Cx30.3). (medscape.com)
The enormous variants and mutations found mean that we are still far from being able to concretely clarify a genotype-phenotype relationship. (bvsalud.org)

The two novel mutations identified in this study, p.M413T in TMC1 and p.R1407T in MYO15A , are classified as likely pathogenic according to the guidelines of ACMG. (hindawi.com)
So, let's focus on the criteria used to classify a variant as pathogenic or likely pathogenic. (goldenhelix.com)
We identified ten pathogenic/likely pathogenic mutations in PTEN ( n = 4), PIK3CA ( n = 3), MTOR ( n = 1) and PPP2R5D ( n = 2) in ten patients. (biomedcentral.com)

Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. (nature.com)
16 Among these loci, "son of sevenless homologue 1" ( SOS1 , OMIM 182530) and "RE1 silencing transcription factor" ( REST , OMIM 600571), which are HGF-related pathogenic genes, have been identified as associated with GINGF1 and GINGF5, respectively. (nature.com)
To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. (molvis.org)
Types 1 and 2 are caused by mutations in the COL2A1 (OMIM 120140 ) and COL11A1 (OMIM 120280 ) genes, respectively. (molvis.org)
It is estimated that these two genes are responsible for more than 95% of the mutations in patients with Stickler syndrome ( HGMD , last updated in March 2015). (molvis.org)
In this study, by targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations p.R34X/p.M413T in TMC1 and p.S3417del/p.R1407T in MYO15A in two recessive Chinese Han deaf families. (hindawi.com)
Using targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations in TMC1 and MYO15A as the genetic causes of the hearing loss in those families. (hindawi.com)
Mutations in four genes have been identified in familial hemiplegic migraine (FHM), from which CACNA1A (FHM type 1) and SCN1A (FHM type 3) code for neuronal voltage-gated calcium or sodium channels, respectively, while ATP1A2 (FHM type 2) encodes the α 2 isoform of the Na + ,K + -ATPase's catalytic subunit, thus classifying FHM primarily as an ion channel/ion transporter pathology. (frontiersin.org)
The multiplex ligation‑dependent probe amplification project of the Angel/chubby and copy number variation (CNV) sequencing were assessed concomitantly to identify the pathogenic genes responsible for the development of AS. (spandidos-publications.com)
Relevant large fragments of mutations and methylation abnormalities were not found in the associated genes. (spandidos-publications.com)
Several genes harbour mutations that contribute to developing PD. (sun.ac.za)
The mutations in these genes provide new opportunities to understand the disease by suggesting biological pathways that could be involved in PD pathogenesis. (sun.ac.za)
The study also implemented targeted next-generation sequencing (NGS) to screen the 751 genes known to harbour pathogenic mutations in patients with neurological diseases using the AmpliSeqTM Neurological Disease panel and the Ion Torrent sequencing platform. (sun.ac.za)
Platinum-resistant tumors are often cross-resistant to PARP inhibitors, raising the question of whether homologous recombination is restored via reversion of mutations affecting DNA-repair genes in these doubly resistant tumors. (aacrjournals.org)
In the tabs below you can see any other genes that have resistance mutations to the same drug(s), and the distribution of mutations that occur in those genes. (sanger.ac.uk)
Alternative transcripts are also displayed here for genes where reported resistant mutations are not located on the canonical transcript but are on the alternative, and also where reported resistant mutations are located at the same genomic position on both the canonical and alternative transcripts or on overlapping genes and/or fusions and share a COSM id. (sanger.ac.uk)
Mutations in three genes, EYA1 , SIX1 , and SIX5 , have been reported in people with BOR/BO syndrome. (medlineplus.gov)
Some people with BOR/BO syndrome do not have an identified mutation in any of the genes listed above. (medlineplus.gov)
Molecular diagnostic testing for mutations in the connexin genes GJB3,GJB4, and GJA1 is available. (medscape.com)

Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513 (p.R250W) or Kif3c (p.R412H) alone do not led to clear phenotypes with gingival fibromatosis, whereas the double mutations led to gingival hyperplasia phenotypes. (nature.com)
This was verified as a new mutation not present in the parents, whereas the daughter had a heterozygous mutation. (researchsquare.com)
Heterozygous mutations have emerged as a major cause of different intellectual disability syndromes. (centogene.com)

Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)
SIX1 gene mutations are a much less common cause of the disorder. (medlineplus.gov)
SIX5 gene mutations have been found in a small number of people with BOR syndrome, although researchers question whether mutations in this gene cause the condition. (medlineplus.gov)
Some affected individuals originally reported to have SIX5 gene mutations were later found to have EYA1 gene mutations as well, and researchers suspect that the EYA1 gene mutations may be the actual cause of the condition in these people. (medlineplus.gov)

Based on these previous analyses and clinical findings, CLRN1 was directly sequenced in 17 patients susceptible to carrying mutations in this gene. (molvis.org)

Genetic testing can do this, too, but it is more complicated to interpret, as scientists need to know whether a change in the gene sequence is pathogenic or a harmless variation, and genetic deletions require further analysis. (alzforum.org)
Splicing mutations may, like exonic deletions, result in truncated proteins or proteins in which specific residues are deleted. (hstalks.com)
Under this is shown the amino acid sequence and the Pfam protein structures, followed by complex mutations and insertions and deletions. (sanger.ac.uk)

however, the treatment is currently accessible only to patients presenting confirmed biallelic mutations that severely impair hRPE65 function, and many reported hRPE65 missense mutations lack sufficient evidences for proving their pathogenicity. (unipi.it)
We performed pathogenicity analysis on the mutation and selected a suitable assisted reproductive technology solution for the patient. (researchsquare.com)

In summary, these results demonstrate ZNF513 + KIF3C as an important genetic combination in HGF manifestation and suggest that ZNF513 mutation may be a major risk factor for HGF. (nature.com)
Our study expanded the mutation spectrums of TMC1 and MYO15A and illustrated that genotype-phenotype correlation in combination with next-generation sequencing may improve the accuracy for genetic diagnosis of deafness. (hindawi.com)
Besides capturing all types of progranulin mutation, a blood-based ELISA could also be cheaper than genetic testing. (alzforum.org)
It is also possible that genetic mutations interact with environmental factors to cause PD onset and its progression. (sun.ac.za)
Biological information analysis revealed the mutation was pathogenic and preimplantation genetic diagnosis was adopted. (researchsquare.com)
Conclusion Genetic testing prior to pregnancy is recommended in Alport syndrome patients or family members prior to pregnancy to determine the specific location of the gene mutation. (researchsquare.com)
Thus, an unexpectedly high proportion of mutations that cause human genetic disease might lead to the creation of new N-glycosylation sites. (wustl.edu)
The results showed that PD-L1-positive expression correlated with the exhaustion of tumor-infiltrating T cells, preoperative abnormal elevation of plasma norepinephrine, high Ki67 index, and adverse pathological behavior in PPGL but not with genetic mutation or metastatic disease, possibly due to the limitation of the small number of patients with metastatic disease (n = 4) in the study cohort. (bvsalud.org)

Putative pathogenic mutations of the COL11A1 gene were absent in this cohort of patients. (molvis.org)

Microarray analysis revealed the previously reported mutation p.Y63X in two unrelated patients, one of them homozygous for the mutation. (molvis.org)
The protocol evaluates how mutations may affect folding and conformation stability of this protein region, potentially helping clinicians to evaluate the eligibility for gene therapy of patients diagnosed with this type of hRPE65 variant of uncertain significance. (unipi.it)
Around 80% of affected patients with DS carry a mutation in the alpha-1 subunit of the sodium channel of the SCN1A gene localized in 2q24.3, encoding a voltage-gated sodium channel essential for the excitability of neurons. (hindawi.com)
We will highlight and focus the symptoms, the mutations of the diagnosed patients, and the treatment to be given. (hindawi.com)
In this study, three novel and two known mutations in the COL2A1 gene were identified in six of 16 Chinese patients with Stickler syndrome. (molvis.org)
This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 gene. (molvis.org)
Analysis of the genotype-phenotype correlation showed that the early onset of high myopia with vitreous abnormalities may serve as a key indicator of Stickler syndrome, while the existence of mandibular protrusion in pediatric patients may be an efficient indicator for the absence of mutations in COL2A1 and COL11A1 . (molvis.org)
She put it to work on blood samples from a large Belgian founder family whose 43 patients showcase the dramatic clinical heterogeneity of progranulin mutations. (alzforum.org)
From this family, Sleegers had serum of six patients, eight younger still-unaffected mutation carriers, and nine non-carriers. (alzforum.org)
The present study focused on identifying pathogenic mutations in Black South African and Nigerian PD patients. (sun.ac.za)
To assess the ongoing safety of belinostat in combination with tremelimumab and durvalumab in patients with advanced solid tumors with ARID1A mutation with focus on urothelial cancer. (bcan.org)
Patients with LRRK2 mutations exhibit a clinical and pathological phenotype indistinguishable from sporadic PD. (biomedcentral.com)
The aim of this study is to characterise the mutation spectrum of this group of patients. (biomedcentral.com)
Two patients harboured somatic PIK3CA mutations, and the level of somatic mosaicism in blood DNA was low. (biomedcentral.com)
Patients who tested positive for mutations in the PI3K-AKT-mTOR pathway had a lower developmental quotient than the rest of the cohort (DQ = 62.8 vs. 76.1, p = 0.021). (biomedcentral.com)
Among the ten patients with identified mutations, brain magnetic resonance imaging was performed in nine, all of whom showed megalencephaly. (biomedcentral.com)
We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and developmental delay/autism spectrum disorder. (biomedcentral.com)
Clinically, patients with germline mutations are difficult to distinguish from patients with somatic mutations, and therefore, sequencing of buccal or saliva DNA is important to identify somatic mosaicism. (biomedcentral.com)
In severely affected patients, reproductive fitness is impaired and mutations have usually arisen de novo. (centogene.com)
Massive parallel sequencing has been an effective means of diagnosing patients, especially those who carry a de novo mutation. (centogene.com)

Germline mutations were validated by Sanger sequencing, whereas somatic mutations were validated by droplet digital PCR. (biomedcentral.com)

1981 ). Although more than 400 mutations have been reported in the COL4A5 gene, of which missense mutations account for 30%, there are no hotspot mutations. (researchsquare.com)

We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creating a new N-glycosylation site in the IFNγR2 chain. (wustl.edu)

PARP inhibitors and platinum-based drugs are approved to treat breast and ovarian cancers with defects in homologous recombination machinery (e.g., due to mutations in BRCA1 / 2 , RAD51C / D , or PALB2 ), but the development of resistance is common. (aacrjournals.org)

In addition, we studied all DPP4 mutations and found the functional substitution R336T weakens both DPP4 protein stability and S-DPP4 binding affinity. (frontiersin.org)

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes. (medscape.com)

Both novel mutations segregated with the phenotype. (molvis.org)
Intrafamilial cosegregation of the mutations with the hearing phenotype was confirmed in both families by the Sanger sequencing. (hindawi.com)
It is one of the most common causes of ADNSHL in Mideast countries due to prevalent consanguineous marriage [ 22 , 23 ], with majority associated with prelingual severe-to-profound hearing loss and mutations in exon 2 leading to a milder auditory phenotype [ 23 ]. (hindawi.com)
Conclusion: Although missense and nonsense mutations in KERA are associated with CNA2, we did not identify any of the previously described mutations or novel mutations that segregated with the disease phenotype in a family with CNA1. (llu.edu)

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations. (nih.gov)
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene. (nih.gov)

Their clinical diagnoses range from FTD, AD, PD, primary progressive aphasia (PPA), and progressive nonfluent aphasia (PNFA)-all from having inherited the same mutation. (alzforum.org)
The finding of mutations in GJB3, GJB4, and GJA1 suggests that the clinical manifestations of EKVP are caused by impaired gap junctional intercellular communication or hemichannel function owing to a dominant effect of mutant gap junction proteins. (medscape.com)
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis. (medscape.com)

These mutations are displayed at the amino acid level across the full length of the gene by default. (sanger.ac.uk)
PS1 Generally, when a missense variant is known to be pathogenic, a different mutation that results in the same amino acid change can also be assumed to be pathogenic. (goldenhelix.com)
This is the pathogenic (positive) dataset of 14,610 amino acid substitutions obtained by manual curation from the PhenCode database (downloaded in June 2009), IDbases and from 16 individual LSDBs. (lu.se)

Germline mutations impairing activity of POLD1 have been implicated in several types of hereditary cancer, in some sporadic cancers, and in a developmental syndrome of premature aging, Mandibular hypoplasia, Deafness, and Progeroid features and Lipodystrophy (MDPL/MDP syndrome). (wikipedia.org)
An additional PTEN mutation, which was classified as variant of unknown significance, was identified in a patient with a pathogenic PTEN mutation, making him harbour bi-allelic germline PTEN mutations. (biomedcentral.com)

the mutation is a novel mutation, which, to the best of our knowledge, has not been previously reported. (spandidos-publications.com)

These findings provide further information on how mutations in coronavirus S proteins effect protein function. (frontiersin.org)
Mutations in the EYA1 , SIX1 , or SIX5 gene may disrupt the proteins' ability to interact with one another and regulate gene activity. (medlineplus.gov)

In contrast, the general theme emerging from progranulin genetics is that null mutations that slash protein levels in half cause familial FTLD-U, while milder missense mutations that cause a partial loss of function have a susceptibility role in Alzheimer's, amyotrophic lateral sclerosis, and perhaps Parkinson disease, van Broeckhoven said in her talk in Prague. (alzforum.org)

Strikingly diverse functional abnormalities have been identified for disease-linked ATP1A2 mutations which frequently lead to changes in the enzyme's voltage-dependent properties, kinetics, or apparent cation affinities, but some mutations are truly deleterious for enzyme function and thus cause full haploinsufficiency. (frontiersin.org)
The mutation impact filters are derived from the FATHMM-MKL algorithm ( Functional Analysis through Hidden Markov Models ). (sanger.ac.uk)
Structure of the functional domain of the LRRK2 protein and the pathogenic mutations associated with PD. (biomedcentral.com)

The goal of the present investigation is to examine the effects of missense mutations in the MERS-CoV S protein on protein stability and binding affinity with DPP4 to provide insight that is useful in developing vaccines to prevent coronavirus infection. (frontiersin.org)
We investigated the effects of MERS-CoV S protein viral mutations on protein stability and binding affinity. (frontiersin.org)
Identification of pathogenic missense mutations using protein stability predictors. (bibliome.ai)

To discover these mutations either whole exome sequencing (WES) or whole genome sequencing (WGS) can be used. (galaxyproject.org)

The data further revealed absence of 25‑bp repeat mutations at the shear mutation site of exon 1 of the small nuclear ribonucleoprotein polypeptide N gene in the subjects examined. (spandidos-publications.com)

Computational approach towards identification of pathogenic missense mutations in AMELX gene and their possible association with amelogenesis imperfecta. (cdc.gov)

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. (medscape.com)

It has been reported that mutations in TMC1 may cause both prelingual profound autosomal recessive deafness DFNB7/11 and postlingual progressive autosomal dominant deafness DFNA36 [ 13 ]. (hindawi.com)
None of the mutations previously associated with autosomal recessive cornea plana (CNA2) were identified. (llu.edu)
Despite their ubiquitous expression, the idiopathic SEC61A1 missense mutations p.V67G and p.T185A trigger a localized disease pattern diagnosed as autosomal dominant tubulointerstitial kidney disease (ADTKD-SEC61A1). (amrita.edu)

Alpha-Mannosidosis is caused by an enzyme defect due to mutations in the gene for lysosomal alpha-Mannosidase (LAMAN) affecting the lysosomal and cellular glycoprotein catabolism with severe consequences for the organism. (europa.eu)
The primary defect in Dubin-Johnson syndrome is a mutation in an apical canalicular membrane protein responsible for the excretion of bilirubin and other nonbile salt organic anions. (medscape.com)

Once a variant has been determined to be pathogenic in one case it should be considered pathogenic in all cases studied. (goldenhelix.com)
This study reports the first missense pathogenic variant in the KAT6A gene causing severe developmental delay, intellectual disability and microcephaly. (centogene.com)
Using exome sequencing we identified a novel, dominantly inherited KAT6A pathogenic missense variant in an affected child and her mildly affected father. (centogene.com)
Here, we report a novel dominantly inherited KAT6A missense variant in the C-terminal transactivation domain identified by exome sequencing in a girl and her father. (centogene.com)

Purpose We report a novel gene mutation in a female patient with Alport syndrome who was planning to undergo assisted reproduction to achieve pregnancy. (researchsquare.com)

Recent studies have shown that pathological mutations of LRRK2 can reduce the rate of guanosine triphosphate (GTP) hydrolysis, increase kinase activity and GTP binding activity, and subsequently cause cell death. (biomedcentral.com)

I. To assess the recommended phase 2 dose of belinostat in combination with tremelimumab and durvalumab in advanced solid tumors harboring ARID1A mutations with focus on urothelial carcinoma. (bcan.org)

Over 100 pathogenic mutations in the NOTCH3 gene, an evolutionarily highly conserved transmembrane receptor protein regulating cell fate, 4 are known to almost always lead to an odd number of cysteine residues in one of the 34 epidermal growth factor like repeats in the extracellular domain of the Notch3 protein. (bmj.com)

Parents were tested by Sanger analysis for the specific mutation found in their affected children. (hindawi.com)

Where FATHMM-MKL scores are ≥ 0.7 the mutation is classified as 'pathogenic', or 'neutral' if the score is ≤ 0.5. (sanger.ac.uk)

In addition, no pathogenic sequence variations were found in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been implicated in corneal and anterior segment dysgenesis. (llu.edu)

abstract = "Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. (wustl.edu)

After CLRN1 sequencing, we found two novel mutations, p.R207X and p.I168N. (molvis.org)
Swyer syndrome), SRY mutations, residing in the HMG (High Mobility Group) domain, are found to affect nuclear transport or binding to and bending of DNA. (eur.nl)
Mutations have predominately been identified in individuals of European descent, although cases have been found in other populations such as South Asia. (bmj.com)

Progeria is one of the most severe forms of a group of degenerative disorders caused by a mutation in the LMNA gene. (99science.org)

We utilized a saturation mutagenesis approach to simulate all possible mutations in the MERS-CoV full-length S, S Receptor Binding Domain (RBD) and DPP4. (frontiersin.org)
This review summarizes the cellular function and pathophysiology of LRRK2 ROCO domain mutations in PD and the perspective of therapeutic approaches. (biomedcentral.com)

Analysis of the SRY gene in an additional five FS cases did not reveal any mutations. (eur.nl)

Mutations in the PCDH19 gene (Xq22.1) are thought to account for about 5% of female DS cases [ 5 ]. (hindawi.com)
Then, a survey is given about ATP1A2 mutations implicated in migraine cases as documented in the literature with focus on mutations that were described to completely destroy enzyme function, or lead to misfolded or mistargeted protein in particular model cell lines. (frontiersin.org)
In about 90 percent of cases, an affected person inherits the mutation from one affected parent . (medlineplus.gov)
In rare cases, pathogenic missense changes in the GJA1 gene encoding connexin-43 (Cx43) have been reported. (medscape.com)

The human retinal pigment epithelium-specific 65-kDa protein (hRPE65) plays a crucial role within the retinoid visual cycle and several mutations affecting either its expression level or its enzymatic function are associated with inherited retinal diseases such as Retinitis Pigmentosa. (unipi.it)
To discover causal mutations of inherited diseases it's common practice to do a trio analysis. (galaxyproject.org)

7 Nodular white matter lesions are seen on imaging and most ischaemic changes occur in the basal ganglia, periventricular white matter and temporal lobes, 1 , 8 and a family with spinal cord lesions in the presence of a novel NOTCH 3 mutation has been described. (bmj.com)

Anatomy13

Organisms9

Diseases45

Chemicals and Drugs66

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Psychiatry and Psychology3

Phenomena and Processes94

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

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Named Groups3

Health Care6

Geographicals2

Variants24

Likely pathogenic3

Genes19

Heterozygous3

Gene mutations4

Carrying mutations in this gene1

Deletions3

Pathogenicity2

Genetic8

Putative1

Patients20

Somatic Mutations1

Hotspot Mutations1

Homozygous1

BRCA11

Substitution1

Phenotypes1

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COL2A12

Clinical3

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Germline2

Novel mutation1

Proteins2

Milder1

Functional3

Protein stability3

Whole exome1

Exon1

Computational1

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Variant4

Report a novel1

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Tumors1

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Neutral1

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Reveal1

Cases4

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Occur1