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Double Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech Population by P. Seeman; O. Bendová; D. Rašková; M. Malíková; D. Groh; Z. Kabelka is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Summary Mutations in the __GJB2__ gene are the most common cause of prelingual, autosomal recessive, sensorineural hearing loss worldwide. Nevertheless, 10% to 50% of patients with prelingual nonsyndromic deafness only carry one mutation in the __GJB2__ gene. Recently a large 342 kb deletion named Δ(GJB6‐D13S1830) involving the __GJB6__ gene was reported in Spanish and French deafness patients, either in a homozygous state or in combination with a monoallelic __GJB2__ mutation. No data have been reported about the frequency of this mutation in central Europe. Thirteen Czech patients with prelingual nonsyndromic sensorineural deafness carrying only one pathogenic mutation in the __GJB2__ gene were tested for the presence of the Δ(GJB6‐D13S1830) mutation. One patient with a __GJB2__ mutation (313del14) also carried the Δ(GJB6‐D13S1830). This is the first reported Czech case, and probably also the first central European case, of prelingual deafness due to mutations involving both the __GJB2__ and __GJB6__ genes. In addition, the Δ(GJB6‐D13S1830) was not detected in 600 control chromosomes from Czech individuals with normal hearing. We show that in the Czech Republic the Δ(GJB6‐D13S

Who reads Double Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech Population?

Author

P. Seeman; O. Bendová; D. Rašková; M. Malíková; D. Groh; Z. Kabelka

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0003-4800)

Published

2005

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)