Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss

The Annals of Otology, Rhinology, and Laryngology
Naoko SakumaShin-Ichi Usami

Abstract

We present 3 patients with congenital sensorineural hearing loss (SNHL) caused by novel PTPRQ mutations, including clinical manifestations and phenotypic features. Two hundred twenty (220) Japanese subjects with SNHL from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment with massively parallel DNA sequencing of all known nonsyndromic hearing loss genes was performed to identify the genetic cause of hearing loss. Four novel causative PTPRQ mutations were identified in 3 cases. Case 1 had progressive profound SNHL with a homozygous nonsense mutation. Case 2 had nonprogressive profound SNHL with a compound heterozygous mutation (nonsense and missense mutation). Case 3 had nonprogressive moderate SNHL with a compound heterozygous mutation (missense and splice site mutation). Caloric test and vestibular evoked myogenic potential (VEMP) test showed vestibular dysfunction in Case 1. Hearing loss levels and progression among the present cases were varied, and there seem to be no obvious correlations between genotypes and the phenotypic features of their hearing loss. The PTPRQ mutations appeared to be responsible for vestibular dysfunction.

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Citations

Aug 31, 2016·Clinical Genetics·Sadaf NazThomas B Friedman
Nov 3, 2017·Current Opinion in Neurology·Pablo Roman-NaranjoJose A Lopez Escamez
Nov 3, 2016·Current Opinion in Pediatrics·Christina M Sloan-Heggen, Richard J H Smith
Oct 28, 2019·Journal of Translational Medicine·Dominika OziębłoMonika Ołdak

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Methods Mentioned

BETA
PCR
cochlear implant

Software Mentioned

ANNOVAR
MutationTaster
LRT
NGSRich
GATK
Sorting
GERP
Picard
Torrent Variant Caller
Torrent Mapping Alignment Program

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