title: Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: 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.
authors: Naoko
authors: N
authors: Sakuma
authors: 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.
authors: Hideaki
authors: H
authors: Moteki
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Hela
authors: H
authors: Azaiez
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Kevin T
authors: KT
authors: Booth
authors: Department of Otorhinolaryngology and Head and Neck Surgery, Yokohama City University School of Medicine, Yokohama, Japan.
authors: Masahiro
authors: M
authors: Takahashi
authors: Department of Otorhinolaryngology and Head and Neck Surgery, Yokohama City University School of Medicine, Yokohama, Japan.
authors: Yasuhiro
authors: Y
authors: Arai
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: A Eliot
authors: AE
authors: Shearer
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Christina M
authors: CM
authors: Sloan
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Shin-Ya
authors: SY
authors: Nishio
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Diana L
authors: DL
authors: Kolbe
authors: 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.
authors: Satoshi
authors: S
authors: Iwasaki
authors: Department of Otorhinolaryngology and Head and Neck Surgery, Yokohama City University School of Medicine, Yokohama, Japan.
authors: Nobuhiko
authors: N
authors: Oridate
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Richard J H
authors: RJ
authors: Smith
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.
authors: Shin-Ichi
authors: S
authors: Usami
mesh_terms: D044466:Asian People / Q000235:genetics; D001301:Audiometry, Pure-Tone; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis / Q000379:methods; D003638:Deafness / Q000235:genetics; D005072:Evoked Potentials, Auditory; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D054631:Receptor-Like Protein Tyrosine Phosphatases, Class 3 / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C516917:PTPRQ protein, human; D054631:Receptor-Like Protein Tyrosine Phosphatases, Class 3
keywords: DFNB84; PTPRQ; hearing loss; massively parallel DNA sequencing