Article
Hearing function in heterozygous carriers of a pathogenic GJB2 gene mutation.
Physiological research - 1 Jan 2013
Groh D, Seeman P, Jilek M, Popelář J, Kabelka Z, Syka J
Abstract excerpt
The most frequent hereditary hearing loss is caused by mutations in the GJB2 gene coding for the gap junction beta 2 protein Connexin 26 (Cx26). In contrast to many studies performed in patients with bi-allelic mutations, audiometric studies on heterozygotes are sparse and often contradictory. To evaluate hearing function in heterozygous carriers of the GJB2 c.35delG mutation, audiometry over the extended...
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