Genetic analysis of the connexin-26 M34T variant
نویسندگان
چکیده
منابع مشابه
Genetic analysis of the connexin-26 M34T variant.
EDITOR—Existing published data cannot conclusively determine if the M34T allele of connexin-26 (GJB2) is a recessive allele causing hearing loss. The recent article by Houseman et al (J Med Genet 2001;38:20-5) “Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/ M34T segregating with mild-moderate nonsyndromic sensorineural hearing loss,” does not resolve this que...
متن کاملGenetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
Mutations in the human gap junction beta-2 gene (GJB2) that encodes connexin-26 have been shown to cause non-syndromic sensorineural hearing loss (NSSNHL) at the DFNB1 locus on 13q11. Functional and genetic data regarding the disease causing potential of one particular GJB2 sequence variant, 101 T-->C (M34T), have proven contradictory. In this study, we found the prevalence of the M34T allele i...
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Mutations of the GJB2 gene encoding the connexin 26 (Cx26) gap junction protein, which is widely expressed in the inner ear, are the primary cause of hereditary non-syndromic hearing loss in several populations. The deafness-associated single amino acid substitution of methionine 34 (M34) in the first transmembrane helix (TM1) with a threonine (T) ensues in the production of mutant Cx26M34T cha...
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Mutations in the GJB2 gene, which encodes the gap junction protein connexin 26 (Cx26), are the primary cause of hereditary prelingual hearing impairment. Here, the p.Cys169Tyr missense mutation of Cx26 (Cx26C169Y), previously classified as a polymorphism, has been identified as causative of severe hearing loss in two Qatari families. We have analyzed the effect of this mutation using a combinat...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2001
ISSN: 1468-6244
DOI: 10.1136/jmg.38.7.e24