• The phenotype of NS due to PTPN11 mutations is clinically unambiguous in the majority of patients and represents a highly penetrant trait. (nih.gov)
  • The presence of certain mutations in genes has no relation with the phenotype i.e. any resulting physical traits or abnormality. (wikipedia.org)
  • The fact that different mutations can induce two distinct phenotypes suggests a phenotype/genotype correlation, but no side-by-side comparison has been done thus far to confirm this. (elsevierpure.com)
  • Here, we significantly expand the cohort and the description of clinical phenotypes for patients with CSCF and FMD2 who carry mutations in MAP3K7. (elsevierpure.com)
  • Additionally, patients with pathogenic mutations in MAP3K7 are at risk for (severe) cardiac disease, have symptoms associated with connective tissue disease, and we show overlap in clinical phenotypes of CSCF with Noonan syndrome (NS). (elsevierpure.com)
  • Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. (bvsalud.org)
  • To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. (bvsalud.org)
  • Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. (qxmd.com)
  • Here we report two frequent mutations, each of which was found in the homozygous state in multiple patients, and each of which was associated with a subset of clinical phenotype in those patients with that mutation. (qxmd.com)
  • Our molecular and clinical data suggest a genotype-phenotype correlation for each of these mutations. (qxmd.com)
  • The clinical description of the new mutations reported here overlap with previously reported CMT4B1 phenotypes caused by mutations in the phosphatase domain of MTMR2, suggesting that nonsense MTMR2 mutations, which are predicted to result in loss or disruption of the phosphatase domain, are associated with a severe phenotype and loss of independent ambulation by the early twenties. (figshare.com)
  • Whereas the few reported missense mutations and also those truncating mutations occurring at the C-terminus after the phosphatase domain cause a rather mild phenotype and patients were still ambulatory above the age 30 years. (figshare.com)
  • Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. (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)
  • We evaluated the evidence for genotype-phenotype correlations in 356 families with protein-truncating BRCA1 mutations. (lu.se)
  • To study genotype-phenotype correlations in a cohort of clinically well-characterized pediatric patients with Noonan syndrome (NS). (nih.gov)
  • We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations. (univaq.it)
  • The aim of this study was toassess genotype- phenotype correlations, focusing on the cardiac features and out-comes of interventions for cardiac conditions, in a single-center cohort of116 patients with molecularly confirmed diagnosis of RASopathy, and compare thesefindings with previously published data. (unicatt.it)
  • The objective of this study was to investigate to what extent renewed comprehensive genetic testing of patients diagnosed with IRD but with previously inconclusive DNA test results can verify the genotype, if confirmation of the genotype has an impact on the understanding of the clinical picture, and, to describe the genetic spectrum encountered in a Swedish IRD cohort. (lu.se)
  • The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. (nih.gov)
  • We have undertaken mutation detection in families with FHC to investigate genotype-phenotype correlations. (ox.ac.uk)
  • We conclude that genotype-phenotype correlations in FMC can be confounded by the presence of more than one mutation in the same copy of a disease gene. (ox.ac.uk)
  • We propose that, contrary to current practice, a complete screen for variants is required even when a mutation has been identified before a genotype-phenolype correlation is proposed. (ox.ac.uk)
  • A novel point mutation of a single T deletion at cDNA position 3964 (3964delT) was first detected in an African American patient, who has a severe phenotype and early onset of clinical symptoms. (qxmd.com)
  • SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes. (medscape.com)
  • 7] Each SPINK5 mutation leads to a different length of LEKTI protein, resulting in genotype/phenotype correlations in cutaneous severity, susceptibility to atopic dermatitis,[8] growth retardation, skin infection, increased stratum corneum protease activities,[9, 10] and elevated kallikrein levels in the stratum corneum. (medscape.com)
  • In this review, we will delineate the clinical features of ALS, outline the major ALS-related genes, and summarize the possible genotype-phenotype correlations of ALS. (biomedcentral.com)
  • Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/ plexiform neurofibromas nor other tumors . (bvsalud.org)
  • Clinical and pathologic correlation of cutaneous COVID-19 vaccine reactions including V-REPP: A registry-based study. (medscape.com)
  • Finally, the phenotype/genotype correlation for clinically significant blood group systems in Jordanian blood donors was studied for the first time to investigate the reliability of current genotyping methods in populations of Arabian descent. (dissertations.se)
  • In the present era of evolving gene-based therapies for inherited retinal dystrophies (IRDs), it has become increasingly important to verify the genotype in every case, to identify all subjects eligible for treatment. (lu.se)
  • Over two decades of watching, broad trends have included linkage studies for gene discovery using microsatellites, mapping of the anatomy of the genome, cataloging of human genetic variation, SNP genotyping/genome wide association studies, and the explosion in sequencing technologies. (cdc.gov)
  • The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease. (bvsalud.org)
  • The The gene responsible for FMF is desigi clinical profile, course, genotype, treatment nated MEFV and was recently cloned [ 8 ]. (who.int)
  • Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. (ox.ac.uk)
  • Genotype-phenotype correlations of neurovascular structures on the feet in patients with pachyonychia congenita: A cross-sectional study. (pachyonychia.org)
  • 82%). The phenotype of patients carrying splice variants was variable: 41% presented with RMFSL (7/17) and 59% with NEDCAS (10/17). (univaq.it)
  • Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations. (ern-ithaca.eu)
  • The phenotype of MAP is often indistinguishable from FAP or AAPC, with patients having usually 10-100 polyps but sometimes more than 100. (medscape.com)
  • To conclude, repeated DNA-analysis was beneficial also in previously tested patients and improved our ability to verify the genotype-phenotype association increasing the understanding of how visual impairment manifests, prognosis, and the inheritance pattern. (lu.se)
  • ABSTRACT Familial Mediterranean fever is quite prevalent among Arabs.We reviewed the files of 56 patients diagnosed with familial Mediterranean fever and followed up at King Hussein Medical Centre in Jordan over 4 years for their clinical profile, course, genotype, treatment and complications.There were 30 males and 26 females with a mean age at onset of 5.2 years. (who.int)
  • Nous avons exa- miné les dossiers de 56 patients ayant eu un diagnostic de fièvre méditerranéenne familiale et suivis au Centre médical Roi Hussein en Jordanie sur une période de 4 ans afin d'étudier leur profil clinique, l'évolution de la maladie, le génotype, le traitement et les complications. (who.int)
  • En ce qui concerne le traitement, 97% des patients répondaient bien à la colchicine et une amyloïdose n'a été documentée chez aucun des patients après un suivi de 5 ans. (who.int)
  • The aim of this study was to investigate the molecular genetic variation found in various phenotypes and in different ethnic populations, to identify new alleles, to try to understand how they contribute to the different phenotypes and to improve current DNA-based blood grouping methods for use in transfusion medicine. (dissertations.se)
  • Unraveling the respective genotype-phenotype correlation has important implications for the genetic explanations. (biomedcentral.com)
  • Unraveling the genotype-phenotype correlations has important implications for the genetic explanations. (biomedcentral.com)
  • A genotype-phenotype correlation at the NF1 region 844-848 exists and will be valuable in the management and genetic counseling of a significant number of individuals. (bvsalud.org)
  • The phenotypes had already been evaluated with electrophysiology and other clinical tests, e.g., visual acuity, Goldmann perimetry, and fundus imaging at the first visit, sometime between 1988-2015 and the previous-in many cases, multiple-genetic testing, performed between 1995 and 2020 had been inconclusive. (lu.se)
  • Information is lacking about the benefits and risks of genetic testing, the efficacy of early interventions, and the population distribution of genotypes and other risk factors associated with disease conditions. (cdc.gov)
  • Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. (medscape.com)
  • The following disorders are conditions with a known phenotype/genotype correlation. (msdmanuals.com)
  • Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. (mpg.de)
  • First, inexpensive genotyping and sequencing have made studies of genotype/phenotype correlations accessible to the scientific masses. (cdc.gov)
  • ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. (mpg.de)
  • The genomic organisation of the JK blood group locus was characterised and the molecular basis of the Jk(a-b-) phenotype associated with the absence of the urea transporter JK glycoprotein in erythrocytes was elucidated in different ethnic groups. (dissertations.se)
  • The full OFD1 phenotype has not been described in males beyond the perinatal period. (nih.gov)
  • None of the participants had a history of drug-induced lupus prior to Acetylation is considered a major meta- phenotype determination. (who.int)
  • In fact, the aim of current multidisciplinary treatment approaches including physiotherapy, occupational therapy, bisphosphonate treatment, and corrective surgical interventions is to shift the severity of the skeletal phenotype from severe (corresponding to OI type III) to moderate (type IV) and from moderate to mild (type I). Thus, an initial OI type classification for a specific patient can change if treatments or other factors decrease the severity of the phenotype. (hindawi.com)
  • Males also had a more severe phenotype and modulated the severity of EXT 1 expression. (ubc.ca)
  • The RNF213 R4810K variant is associated with significantly early age of onset and the severity of clinical disease phenotypes [ 3 - 5 ]. (j-stroke.org)
  • In order to assess a possible genotype-phenotype correlation, a severity scoring system was developed and each individual with Costello syndrome was scored based on certain manifestations of Costello syndrome present in early childhood, childhood, and young adulthood. (rasopathiesnet.org)
  • These mutation groups were analyzed and compared for any significant differences among severity of Costello syndrome phenotype. (rasopathiesnet.org)
  • No correlation was found between the severity of disease and the type or location of the mutation, even the ones with large deletions. (eurospe.org)
  • Genotype-phenotype correlations in hereditary multiple exostoses in British Columbia Alvarez, Christine M. (ubc.ca)
  • Homozygous genotypes were more frequent than expected and were associated with a less severe form of the disease. (nih.gov)
  • In conclusion a genotype phenotype correlation exists where EXT 1 is linked to a more severe phenotype. (ubc.ca)
  • Postpubertal males had a more severe dental phenotype. (eurospe.org)
  • Phenotypic characteristics were examined in melanoma-prone southern Swedish CDKN2A (p16-113insArg/p14ARF-128insSer) mutation families, in relation to the CDKN2A genotype, nevi, clinically atypical nevi (CAN) and melanoma. (lu.se)
  • Molecular diagnosis was used in conjunction with clinical, biochemical and enzymological data to evaluate genotype-phenotype correlation. (nih.gov)
  • The correlation between clinical characteristics and the RNF213 R4810K variant in MMD is summarized in Table 1 and Supplementary Figure 3 . (j-stroke.org)
  • The results of the subgroup analysis of genotype-phenotype correlations for RNF213 R4810K variant with the age at onset are described in the Supplementary Results , Supplementary Tables 2 - 4 , and Supplementary Figure 3 . (j-stroke.org)
  • and it is only these proteins that conclusively show whether a part of a genome is a coding region or not to result in phenotypes. (degruyter.com)
  • Large screening studies also indicate a significant underestimation (approximately two-fold) of the prevalence of the N370S/N370S genotype in the affected Ashkenazi Jewish patient population. (nih.gov)
  • 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)
  • NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. (nature.com)
  • dblp: Identifying Genotype-Phenotype Correlations via Integrative Mutation Analysis. (uni-trier.de)
  • Mixed model repeated measures ANOVA with unstructured within subject correlation, pairwise comparisons, and contrast were used for analysis. (rasopathiesnet.org)
  • Parents may or may not have the long QT syndrome (LQTS) phenotype . (nih.gov)
  • Genotype-phenotype correlation in X-linked Alport syndrome. (snpedia.com)
  • Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype. (lu.se)
  • No participant fulfilled the atypical mole syndrome phenotype criteria. (lu.se)
  • The atypical mole syndrome phenotype was, however, not verified in the studied families and total naevus counts were low. (lu.se)
  • The only clear genotype-phenotype correlation found was between the position of the mutation site and the presence or absence of congenital hypertrophy of the retinal pigment epithelium (CHRPE). (bmj.com)
  • Absence of genotype-phenotype correlation. (medlineplus.gov)
  • We used surface interpolation of Old World lactase persistence genotype and phenotype frequency estimates obtained from all available literature and perform a comparison between predicted and observed trait frequencies in continuous space. (biomedcentral.com)
  • By accommodating additional data on sample numbers and known false negative and false positive rates for the various lactase persistence phenotype tests (blood glucose and breath hydrogen), we also apply a Monte Carlo method to estimate the probability that known lactase persistence-associated allele frequencies can explain observed trait frequencies in different regions. (biomedcentral.com)
  • Colours and colour key show the frequencies of the LP phenotype estimated by surface interpolation. (biomedcentral.com)
  • Lactase persistence genotype data is currently insufficient to explain lactase persistence phenotype frequency in much of western and southern Africa, southeastern Europe, the Middle East and parts of central and southern Asia. (biomedcentral.com)
  • All of the subjects were genotyped using established PCR-based techniques. (cdc.gov)
  • Pour plus d'information, et notamment pour consulter la liste des tiers intervenant sur notre site, consultez la Politique de cookies accessible en bas de page. (genethon.com)
  • An established genotype phenotype correlation will aid in patient management in terms of surveillance, determining prognosis and mangement. (ubc.ca)