C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment

• DOI: 10.1186/1472-6815-5-11
• Publication Date: 2005-12-08T19:13:48Z
• Authors: Igor Medica; Gorazd Rudolf; Manuela Balaban; Borut Peterlin
• Keywords: Heterozygote advantage; Compound heterozygosity

Abstract Background C.35delG/GJB2 mutation is the most frequent genetic cause of deafness in Caucasians. Another some Caucasian populations del( GJB6 -D13S1830). Both GJB2 and genes belong to same DFNB1 locus when two mutations are found combination a hearing-impaired person, digenic pattern inheritance suggested. Methods We examined 63 Croatian subjects (25 familial 38 sporadic cases) with prelingual non-syndromic hearing impairment by polymerase chain reaction for presence c.35delG/ -D13S1830) mutations. Results Of unrelated subjects, was 21 (33.3%). In 5 them heterozygous state, all being compound heterozygotes, as sequencing revealed second within coding region gene 3 splice site 2 subjects. The not investigated Conclusion Our results contribute knowledge geographic distribution population genetics Europeans.