Article
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
BMC medical genomics - 18 Nov 2022
Yang Jin-Yuan, Wang Wei-Qian, Han Ming-Yu, Huang Sha-Sha, Wang Guo-Jian, Su Yu, Xu Jin-Cao, Fu Ying, Kang Dong-Yang, Yang Kun, Zhang Xin, Liu Xing, Gao Xue, Yuan Yong-Yi, Dai Pu
Abstract excerpt
Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO15A c.5964+3G > A and c.8375 T > C (p.Val2792Ala) as the possible deafness-causing variants. Eight year follow up identified one new affected individual in this family, who also showed congenital, severe...
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