title: Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.
abstract: OBJECTIVE
  We identified 2 patients in 1 family who had novel mutations in GRXCR1, which caused progressive hearing loss.
  
  
  METHODS
  One thousand one hundred twenty Japanese hearing loss patients with sensorineural hearing loss from unrelated families were enrolled in this study. Targeted genomic enrichment with massively parallel sequencing of all known nonsyndromic hearing loss genes was used to identify the genetic causes of hearing loss.
  
  
  RESULTS
  In this study, 2 affected individuals with compound heterozygous mutations-c.439C>T (p.R147C) and c.784C>T (p.R262X)-in GRXCR1 were identified. The proband had moderate to severe hearing loss and suffered from dizziness with bilateral canal paralysis.
  
  
  CONCLUSIONS
  Our cases are the first identified in the Japanese population and are consistent with previously reported cases. The frequency of mutations in GRXCR1 seems to be extremely rare. This study underscores the importance of using comprehensive genetic testing for hearing loss. Furthermore, longitudinal audiologic assessment and precise vestibular testing are necessary for a better understanding of the mechanisms of hearing loss and vestibular dysfunction caused by GRXCR1 mutations.
authors: Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Kentaro
authors: K
authors: Mori
authors: Department of Otolaryngology-Head and Neck Surgery, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors: Ikuyo
authors: I
authors: Miyanohara
authors: Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Hideaki
authors: H
authors: Moteki
authors: Department of Otolaryngology, 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, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors: Yuichi
authors: Y
authors: Kurono
authors: Department of Otolaryngology, 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: D000328:Adult; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics; D018450:Disease Progression; D004244:Dizziness / Q000235:genetics*; D005260:Female; D054477:Glutaredoxins / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D015837:Vestibular Diseases / Q000235:genetics*
chemical_list: C547810:GRXCR1 protein, human; D054477:Glutaredoxins
keywords: GRXCR1; dizziness; genetics; hearing loss; massively parallel sequencing