Article
Differences in hearing levels between siblings with hearing loss caused by GJB2 mutations.
Auris, nasus, larynx - 1 Dec 2020
Fujioka Masato, Hosoya Makoto, Nara Kiyomitsu, Morimoto Noriko, Sakamoto Hirokazu, Otsu Masahide, Nakano Atsuko, Arimoto Yukiko, Masuda Sawako, Sugiuchi Tomoko, Masuda Shin, Morita Noriko, Ogawa Kaoru, Kaga Kimitaka, Matsunaga Tatsuo
Abstract excerpt
OBJECTIVE: Hearing loss caused by GJB2 mutations is inherited in an autosomal recessive manner (DFNB1); thus siblings of an affected child have a 25% chance of also being affected. Hearing loss among subsequent siblings carrying the same GJB2 mutation is a concern for parents and a frequent topic of enquiry during genetic counseling. Evidence exists for genotype-phenotype correlations of GJB2 mutations; however,...
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