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

• Main Authors: Jin-Yuan Yang (Author), Wei-Qian Wang (Author), Ming-Yu Han (Author), Sha-Sha Huang (Author), Guo-Jian Wang (Author), Yu Su (Author), Jin-Cao Xu (Author), Ying Fu (Author), Dong-Yang Kang (Author), Kun Yang (Author), Xin Zhang (Author), Xing Liu (Author), Xue Gao (Author), Yong-Yi Yuan (Author), Pu Dai (Author)
• Format: Book
• Published: BMC, 2022-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...