Open AccessIdentification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non‐syndromic hearing loss
Author(s) -
Wang Luming,
Zhang Yue,
Xue Qiuxia,
Huang Pinghua,
Liu Xiaodan
Publication year - 2022
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.24653
Subject(s) - genetics , sanger sequencing , biology , exome sequencing , locus (genetics) , hearing loss , compound heterozygosity , gene , genetic heterogeneity , genetic counseling , mutation , medicine , phenotype , audiology
Background The most common inheritance pattern responsible for congenital deafness belongs to autosomal recessive non‐syndromic hearing loss (ARNSHL) and mutations of the highly heterogeneous MYO15A locus are present in a large proportion of cases. Methods One Chinese family with ARNSHL was subjected to clinical evaluation and genetic analysis. We used targeted and whole exome sequencing with Sanger sequencing to identify and characterize mutations. Bioinformatics analysis was conducted to evaluate molecular functions. Results Three compound heterozygous MYO15A gene variants, including two novel variants, c.6804G > A (p.M2268I), and c.6188_6190delinsGTCA (p.F2063Cfs*60), responsible for deafness were identified. Pathogenicity was assessed by multiple bioinformatics analyses. Conclusion We identified novel mutations of the MYO15A locus associated with ARNSHL in a Chinese family. The current findings expand the MYO15A pathogenic mutation spectrum to assist with genetic counseling and prenatal diagnosis.