Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant

Na, Gina; Choi, Heekyung; Joo, Sun Young; Rim, John Hoon; Kim, Jung Ah; Kim, Hye Youn; Yu, Seyoung; Jeong, Yeonsu; Shin, Geun Cheol; Lee, Ho‐Young; Kim, Da Hye; Gee, Heon Yung; Jung, Jinsei; Choi, Jae Young

doi:10.1016/j.heares.2021.108227

Cited by 2 publications

(1 citation statement)

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“…Cochlear HCs convert mechanical sound waves into electrical neural signals in a process fundamental for normal auditory function 14 . Pathogenic mutations of MYO15A , of which 149 have been reported in ClinVar, can cause severe to profound hearing impairment, leading to autosomal recessive deafness 3 (DFNB3, MIM: 600316) 15 . However, many unidentified mutation sites in MYO15A remain and have varying frequency in different ethnic populations.…”

Section: Introductionmentioning

confidence: 99%

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non‐syndromic hearing loss

Wang

Zhang

Xue

et al. 2022

Clinical Laboratory Analysis

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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.

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Section: Introductionmentioning

confidence: 99%