Article
Investigation of the hearing levels of siblings affected by a single GJB2 variant: Possibility of genetic modifiers.
International journal of pediatric otorhinolaryngology - 1 Oct 2021
Hosoya Makoto, Fujioka Masato, Nara Kiyomitsu, Morimoto Noriko, Masuda Sawako, Sugiuchi Tomoko, Katsunuma Sayaka, Takagi Akira, Morita Noriko, Ogawa Kaoru, Kaga Kimitaka, Matsunaga Tatsuo
Abstract excerpt
OBJECTIVE: Variants in GJB2 can cause autosomal recessive deafness (DFNB1). There is evidence for genotype-phenotype correlations of GJB2 variants; however, several genotypes can cause varying levels of hearing loss likely attributable to differences in genetic or environmental background. As siblings share approximately 50% of their genetic background and usually have a common environmental background, analysis...
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