Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss

Naoko Sakuma; Hideaki Moteki; Hela Azaiez; Kevin T Booth; Masahiro Takahashi; Yasuhiro Arai; A. Eliot Shearer; Christina M Sloan; Shin-ya Nishio; Diana L Kolbe; Satoshi Iwasaki; Nobuhiko Oridate; Richard J. H Smith; Shin-ichi Usami

doi:10.1177/0003489415575041

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Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss

Journal article

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Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss

Naoko Sakuma, Hideaki Moteki, Hela Azaiez, Kevin T Booth, Masahiro Takahashi, Yasuhiro Arai, A. Eliot Shearer, Christina M Sloan, Shin-ya Nishio, Diana L Kolbe, …

Annals of otology, rhinology & laryngology, Vol.124(1_suppl), pp.184-192S

05/2015

DOI: 10.1177/0003489415575041

PMCID: PMC4441868

PMID: 25788564

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Abstract

Objectives: We present 3 patients with congenital sensorineural hearing loss (SNHL) caused by novel PTPRQ mutations, including clinical manifestations and phenotypic features. Methods: 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. Results: 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. Conclusion: 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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Title: Subtitle: Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss
Creators: Naoko Sakuma - Department of Otorhinolaryngology and Head and Neck Surgery, Yokohama City University School of Medicine, Yokohama, Japan, Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
Hideaki Moteki - Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan, Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA, Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
Hela Azaiez - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Kevin T Booth - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Masahiro Takahashi - Department of Otorhinolaryngology and Head and Neck Surgery, Yokohama City University School of Medicine, Yokohama, Japan
Yasuhiro Arai - Department of Otorhinolaryngology and Head and Neck Surgery, Yokohama City University School of Medicine, Yokohama, Japan
A. Eliot Shearer - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Christina M Sloan - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Shin-ya Nishio - Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan, Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
Diana L Kolbe - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Satoshi Iwasaki - Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan, Department of Otorhinolaryngology, International University of Health and Welfare, Mita Hospital, Minatoku, Tokyo, Japan
Nobuhiko Oridate - Department of Otorhinolaryngology and Head and Neck Surgery, Yokohama City University School of Medicine, Yokohama, Japan
Richard J. H Smith - Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Shin-ichi Usami - Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan, Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
Resource Type: Journal article
Publication Details: Annals of otology, rhinology & laryngology, Vol.124(1_suppl), pp.184-192S
DOI: 10.1177/0003489415575041
PMID: 25788564
PMCID: PMC4441868
NLM abbreviation: Ann Otol Rhinol Laryngol
ISSN: 0003-4894
eISSN: 1943-572X
Language: English
Date published: 05/2015
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine; Iowa Institute of Human Genetics
Record Identifier: 9984007286602771

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