Article
Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss.
European journal of medical genetics - 1 Dec 2021
Yu Sha, Chen Wen-Xia, Zhang Yun-Fei, Ni Yihua, Lu Ping, Wang Bin, Wang Yan, Wu Bingbing, Ni Qi, Wang Huijun, Xu Zheng-Min
Abstract excerpt
Autosomal recessive deafness-102 (DFNB102), a new profound prelingual non-syndromic hearing loss, is caused by mutations in the EPS8 gene. To date, only three such consanguineous families with three different homozygous variants in EPS8 have been reported. Here, we report the fourth case from a non-consanguineous Chinese family, an 11-month-old male infant presented with congenital profound non-syndromic hearing...
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