FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W609482210> ?p ?o ?g. }

• W609482210 endingPage "1319" @default.
• W609482210 startingPage "1316" @default.
• W609482210 abstract "Recent advances in molecular genetics have increased the identification of genes and mutations responsible for inherited forms of hearing loss (HL), enabling early detection of these cases. Approximately, 60% of early-onset HL cases are due to genetic causes, of which 70% are non-syndromic. Of these, 75-80% are inherited in an autosomal recessive pattern (DFNB). Mutations in GJB2 gene, coding for connexin 26 (Cx26), are the major cause of autosomal recessive hereditary HL, but some GJB2 mutations are yet of unclear or controversial significance.The aim of the present study was to identify the etiology of hearing loss, and correlate genotype-phenotype, in two Portuguese siblings with profound and moderate non-syndromic sensorineural bilateral HL.The affected subjects and their parents underwent audiological and genetic study. Molecular analysis of GJB2 gene was performed, searching for mutations in the coding region and receptor splicing site by automated sequencing.The onset and the degree of HL were different in the two affected subjects. However, the same GJB2 genotype [p.Met34Thr]+[p.Arg184Pro] was identified in both siblings. The c.551G>C (p.Arg184Pro) and c.101T>C (p.Met34Thr) missense variants were inherited from the father and mother, respectively, both heterozygous carriers of these variants.The clinical and genetic data here presented suggest that the non-syndromic sensorineural HL of these two Portuguese siblings might be due to the presence of p.Met34Thr and p.Arg184Pro variants in compound heterozygosity. If so, p.Met34Thr variant could have function as a hypomorphic allele that may cause HL depending on the opposing GJB2 allele. The observed phenotypic variability may not, however, be solely explained by variable expression of this genotype. A putative modifier gene or mutations in another HL-associated gene could probably be contributing to the severe HL in one of the siblings." @default.
• W609482210 created "2016-06-24" @default.
• W609482210 creator A5000153072 @default.
• W609482210 creator A5002890926 @default.
• W609482210 creator A5009144876 @default.
• W609482210 creator A5018627952 @default.
• W609482210 creator A5020883750 @default.
• W609482210 creator A5025499371 @default.
• W609482210 creator A5055561117 @default.
• W609482210 creator A5065665792 @default.
• W609482210 creator A5088010503 @default.
• W609482210 date "2015-08-01" @default.
• W609482210 modified "2023-09-24" @default.
• W609482210 title "The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes" @default.
• W609482210 cites W1979229570 @default.
• W609482210 cites W1981232693 @default.
• W609482210 cites W1991259792 @default.
• W609482210 cites W1993967715 @default.
• W609482210 cites W1997151269 @default.
• W609482210 cites W1999640231 @default.
• W609482210 cites W2005992728 @default.
• W609482210 cites W2011355532 @default.
• W609482210 cites W2018596114 @default.
• W609482210 cites W2023056161 @default.
• W609482210 cites W2026170277 @default.
• W609482210 cites W2027120457 @default.
• W609482210 cites W2043982229 @default.
• W609482210 cites W2044533064 @default.
• W609482210 cites W2049830782 @default.
• W609482210 cites W2056661909 @default.
• W609482210 cites W2065019964 @default.
• W609482210 cites W2069274845 @default.
• W609482210 cites W2082554776 @default.
• W609482210 cites W2091567243 @default.
• W609482210 cites W2107205833 @default.
• W609482210 cites W2119744081 @default.
• W609482210 cites W2128926185 @default.
• W609482210 cites W2134174046 @default.
• W609482210 cites W2134206551 @default.
• W609482210 cites W2158116492 @default.
• W609482210 cites W2158291175 @default.
• W609482210 cites W2158585306 @default.
• W609482210 cites W2163451904 @default.
• W609482210 doi "https://doi.org/10.1016/j.ijporl.2015.05.041" @default.
• W609482210 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26117665" @default.
• W609482210 hasPublicationYear "2015" @default.
• W609482210 type Work @default.
• W609482210 sameAs 609482210 @default.
• W609482210 citedByCount "5" @default.
• W609482210 countsByYear W6094822102018 @default.
• W609482210 countsByYear W6094822102021 @default.
• W609482210 countsByYear W6094822102022 @default.
• W609482210 crossrefType "journal-article" @default.
• W609482210 hasAuthorship W609482210A5000153072 @default.
• W609482210 hasAuthorship W609482210A5002890926 @default.
• W609482210 hasAuthorship W609482210A5009144876 @default.
• W609482210 hasAuthorship W609482210A5018627952 @default.
• W609482210 hasAuthorship W609482210A5020883750 @default.
• W609482210 hasAuthorship W609482210A5025499371 @default.
• W609482210 hasAuthorship W609482210A5055561117 @default.
• W609482210 hasAuthorship W609482210A5065665792 @default.
• W609482210 hasAuthorship W609482210A5088010503 @default.
• W609482210 hasConcept C104317684 @default.
• W609482210 hasConcept C12125453 @default.
• W609482210 hasConcept C127716648 @default.
• W609482210 hasConcept C135763542 @default.
• W609482210 hasConcept C143589142 @default.
• W609482210 hasConcept C180754005 @default.
• W609482210 hasConcept C2780493683 @default.
• W609482210 hasConcept C54355233 @default.
• W609482210 hasConcept C548259974 @default.
• W609482210 hasConcept C71924100 @default.
• W609482210 hasConcept C75563809 @default.
• W609482210 hasConcept C86803240 @default.
• W609482210 hasConceptScore W609482210C104317684 @default.
• W609482210 hasConceptScore W609482210C12125453 @default.
• W609482210 hasConceptScore W609482210C127716648 @default.
• W609482210 hasConceptScore W609482210C135763542 @default.
• W609482210 hasConceptScore W609482210C143589142 @default.
• W609482210 hasConceptScore W609482210C180754005 @default.
• W609482210 hasConceptScore W609482210C2780493683 @default.
• W609482210 hasConceptScore W609482210C54355233 @default.
• W609482210 hasConceptScore W609482210C548259974 @default.
• W609482210 hasConceptScore W609482210C71924100 @default.
• W609482210 hasConceptScore W609482210C75563809 @default.
• W609482210 hasConceptScore W609482210C86803240 @default.
• W609482210 hasIssue "8" @default.
• W609482210 hasLocation W6094822101 @default.
• W609482210 hasLocation W6094822102 @default.
• W609482210 hasOpenAccess W609482210 @default.
• W609482210 hasPrimaryLocation W6094822101 @default.
• W609482210 hasRelatedWork W1988368560 @default.
• W609482210 hasRelatedWork W1993967715 @default.
• W609482210 hasRelatedWork W2027933159 @default.
• W609482210 hasRelatedWork W2043982229 @default.
• W609482210 hasRelatedWork W2046460270 @default.
• W609482210 hasRelatedWork W2067337833 @default.
• W609482210 hasRelatedWork W2099129205 @default.

• next