Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing

Journal of Human Genetics
Hidekane YoshimuraShin-Ichi Usami

Abstract

Usher syndrome type 1 (USH1) is the most severe of the three USH subtypes due to its profound hearing loss, absent vestibular response and retinitis pigmentosa appearing at a prepubescent age. Six causative genes have been identified for USH1, making early diagnosis and therapy possible through DNA testing. Targeted exon sequencing of selected genes using massively parallel DNA sequencing (MPS) technology enables clinicians to systematically tackle previously intractable monogenic disorders and improve molecular diagnosis. Using MPS along with direct sequence analysis, we screened 227 unrelated non-syndromic deaf children and detected recessive mutations in USH1 causative genes in five patients (2.2%): three patients harbored MYO7A mutations and one each carried CDH23 or PCDH15 mutations. As indicated by an earlier genotype-phenotype correlation study of the CDH23 and PCDH15 genes, we considered the latter two patients to have USH1. Based on clinical findings, it was also highly likely that one patient with MYO7A mutations possessed USH1 due to a late onset age of walking. This first report describing the frequency (1.3-2.2%) of USH1 among non-syndromic deaf children highlights the importance of comprehensive genetic testing fo...Continue Reading

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Citations

Dec 12, 2018·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Guillaume JouretAnne-Sophie Lebre
Feb 27, 2018·American Journal of Audiology·Kristen L JankyOluwaseye Ayoola Ogun
Nov 6, 2018·Acta Ophthalmologica·Longhao KuangXiaohe Yan
Jul 12, 2017·Current Opinion in Otolaryngology & Head and Neck Surgery·Geoffrey Casazza, Jeremy D Meier
Jan 30, 2021·Documenta Ophthalmologica. Advances in Ophthalmology·Lucia AmbrosioMargaret Kenna
Nov 17, 2020·Frontiers in Genetics·Meg WhatleyElaine Y M Wong
Mar 12, 2021·BMC Medical Genomics·Dae Joong MaHyeong Gon Yu

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Datasets Mentioned

BETA
DRA003791

Methods Mentioned

BETA
cochlear implant

Software Mentioned

ANNOVAR
MutationTaster
LRT
Polyphen2
Variant Caller
Torrent Mapping Alignment Program
Torrent
SIFT

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