Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

BMC Medical Genetics
Mun Young ChangByung Yoon Choi

Abstract

MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound hearing loss (DFNB3), which ultimately requires cochlear implantation in early childhood. Recently, such variants have also been shown to possibly cause moderate-to-severe hearing loss. Herein, we also demonstrate that some MYO15A mutant alleles can cause postlingual onset of progressive partial deafness. Two multiplex Korean families (SB246 and SB224), manifesting postlingual, progressive, partial deafness in an autosomal recessive fashion, were recruited. Molecular genetics testing was performed in two different pipelines, in a parallel fashion, for the SB246 family: targeted exome sequencing (TES) of 129 known deafness genes from the proband and whole exome sequencing (WES) of all affected subjects. Only the former pipeline was performed for the SB224 family. Rigorous bioinformatics analyses encompassing structural variations were executed to investigate any causative variants. In the SB246 family, two different molecular diagnostic pipelines provided exactly the same candidate variants: c.5504G > A (p.R1835H) in the motor domain and c.10245_10247delCTC (p.S3417del) in the FERM domain of ...Continue Reading

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Citations

Feb 6, 2019·American Journal of Medical Genetics. Part a·Chaya MuraliElizabeth Bhoj
Feb 7, 2020·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Shin-Ichi UsamiHidekane Yoshimura
Jul 16, 2021·International Journal of Pediatric Otorhinolaryngology·Pengfei LiangDingjun Zha

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

PolyPhen
PhyloP
SeqMan NGen
EXCAVATOR2
Pathogenic variantTaster
house CNV tool
SIFT
ArrayStar
GERP
Lasergene

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