GJB2 and GJB6 mutations in Croatians with prelingual non-syndromic hearing impairment
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منابع مشابه
C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment
BACKGROUND C.35delG/GJB2 mutation is the most frequent genetic cause of deafness in Caucasians. Another frequent mutation in some Caucasian populations is del(GJB6-D13S1830). Both GJB2 and GJB6 genes belong to the same DFNB1 locus and when the two mutations are found in combination in a hearing-impaired person, a digenic pattern of inheritance is suggested. METHODS We examined 63 Croatian sub...
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The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far. The most common form of NSHL is the autosomal recessive form (ARNSHL). In this study, a cohort of 36 big ARNSHL pedigrees with 4 or more patients from 7 provinces of Iran was investig...
متن کاملEvaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...
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Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...
متن کاملBMC Ear, Nose and Throat Disorders
Background: C.35delG/GJB2 mutation is the most frequent genetic cause of deafness in Caucasians. Another frequent mutation in some Caucasian populations is del(GJB6-D13S1830). Both GJB2 and GJB6 genes belong to the same DFNB1 locus and when the two mutations are found in combination in a hearing-impaired person, a digenic pattern of inheritance is suggested. Methods: We examined 63 Croatian sub...
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