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- W1570402945 abstract "Abstract 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 subjects (25 familial and 38 sporadic cases) with prelingual non-syndromic hearing impairment by polymerase chain reaction for the presence of the c.35delG/ GJB2 and the del( GJB6 -D13S1830) mutations. Results Of the 63 unrelated hearing-impaired subjects, the mutation c.35delG/ GJB2 was found in 21 subjects (33.3%). In 5 of them the mutation was found in the heterozygous state, all of them being compound heterozygotes, as sequencing revealed a second mutation within the coding region of the gene in 3 subjects, and a splice site mutation in 2 subjects. The del( GJB6 -D13S1830) mutation was not found in the investigated hearing-impaired Croatian subjects. Conclusion Our results contribute to the knowledge of geographic distribution and population genetics of the GJB2 and GJB6 mutations in the Europeans." @default.
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- W1570402945 date "2005-12-01" @default.
- W1570402945 modified "2023-10-17" @default.
- W1570402945 title "C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment" @default.
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- W1570402945 doi "https://doi.org/10.1186/1472-6815-5-11" @default.
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