Hearing loss and connexin 26
نویسندگان
چکیده
منابع مشابه
Connexin 26 and autosomal recessive non-syndromic hearing loss
It has long been recognized that heredity plays a major role in hearing impairment. Although the facts about the genetic basis of hearing loss have fascinated both clinicians and geneticists for a long time, it is only within the last few years that the genes and molecular mechanisms underlying deafness have begun to be discovered. There is a great deal of genetic heterogeneity in deafness. Thi...
متن کاملConnexin 26 studies in patients with sensorineural hearing loss.
OBJECTIVE To determine the spectrum of connexin 26 (Cx26) mutations and their phenotypes in children with sensorineural hearing loss (SNHL) or mixed hearing loss (MHL). DESIGN Children with SNHL or MHL were prospectively tested for mutations in the entire coding region of the Cx26 gene. PATIENTS Children with SNHL or MHL with no obvious etiology for the hearing loss. RESULTS Between Decem...
متن کاملScreening of Connexin 26 in Nonsyndromic Hearing Loss
Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11-22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important. The viability and benefits of screening for mutations in the connexin 26 gene are now beginning to change the diagnostic evaluation and identification of the etio...
متن کاملMutations of the Connexin 26 gene in families with non-syndromic hearing loss.
Autosomal recessive non-syndromic hearing impairment (ARNSHI) is caused by mutations in the gap junction gene GJB2 (Connexin 26; Cx26) in numerous human populations. The aim of this study was to determine the frequency of six GJB2 mutations in 50 Syrian families with congenital deafness and in 180 controls. PCR-RFLP was used to detect the 35delG, 167delT, M34T, W24X, W77R and E47X mutations, an...
متن کاملMutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
Mutations in the gene (GJB2) encoding connexin 26 (cx26) have been linked to sensorineural hearing loss either alone or as part of a syndrome. Here we compare the properties of four cx26 mutants derived from point mutations associated with dominantly inherited hearing loss, either non-syndromic (W44S, R75W) or with various skin disorders (G59A, D66H, R75W). Since cx26 and cx30 are co-localized ...
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ژورنال
عنوان ژورنال: JRSM
سال: 2002
ISSN: 0141-0768
DOI: 10.1258/jrsm.95.4.171