USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms

The Annals of Otology, Rhinology, and Laryngology
Hideaki MotekiShin-Ichi Usami

Abstract

We present 2 patients who were identified with mutations in the GPR98 gene that causes Usher syndrome type 2 (USH2). One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were used to identify the genetic causes of hearing loss. We identified causative mutations in the GPR98 gene in 1 family (2 siblings). The patients had moderate sloping hearing loss, and no progression was observed over a period of 10 years. Fundus examinations were normal. However, electroretinograms revealed impaired responses in both patients. Early diagnosis of Usher syndrome has many advantages for patients and their families. This study supports the use of comprehensive genetic diagnosis for Usher syndrome, especially prior to the onset of visual symptoms, to provide the highest chance of diagnostic success in early life stages.

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Citations

Jan 23, 2016·Journal of Human Genetics·Hidekane YoshimuraShin-Ichi Usami
Nov 20, 2016·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Paulomi Mehta, Xianhua Piao
Nov 3, 2016·Current Opinion in Pediatrics·Christina M Sloan-Heggen, Richard J H Smith
Aug 17, 2021·Frontiers in Cell and Developmental Biology·Haiying SunAlan G Cheng
Aug 29, 2021·Acta Oto-laryngologica·Hidekane YoshimuraUNKNOWN Interactable Hearing Disorder Consortium

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Methods Mentioned

BETA
electrophoresis

Software Mentioned

LRT
PhyloP
GATK
Galaxy
Mutation Taster
NGSRich
Picard
Sciclone
GERP
Polyphen2

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