Article Text

Download PDFPDF
Prevalent connexin 26 gene (GJB2) mutations in Japanese
  1. Satoko Abea,
  2. Shin-ichi Usamia,
  3. Hideichi Shinkawaa,
  4. Philip M Kelleyb,
  5. William J Kimberlingb
  1. aDepartment of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan, bDepartment of Genetics, Boys Town National Research Hospital, Omaha, NE 68131, USA
  1. Professor Usami, Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan


The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations have been reported so far. This paper presents mutation analysis for GJB2 in Japanese non-syndromic hearing loss patients compatible with recessive inheritance. It was confirmed that GJB2mutations are an important cause of hearing loss in this population, with three mutations, 235delC, Y136X, and R143W, especially frequent. Of these three mutations, 235delC was most prevalent at 73%. Surprisingly, the 35delG mutation, which is the most commonGJB2 mutation in white subjects, was not found in the present study. Our data indicated that specific combinations of GJB2 mutation exist in different populations.

  • connexin 26
  • GJB2
  • Japanese
  • non-syndromic hearing loss

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.