Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

Mirei Taniguchi, Hirotaka Matsuo, Seiko Shimizu, Akiyoshi Nakayama, Koji Suzuki, Nobuyuki Hamajima, Nariyoshi Shinomiya, Shinya Nishio, Shinji Kosugi, Shin Ichi Usami, Juichi Ito, Shin Ichiro Kitajiri

研究成果: Article

13 引用 (Scopus)

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Hearing impairment is one of the most common sensory disorders that affect ∼1 in 1000 children, and half of them are considered to be hereditary. Information about the carrier frequencies of mutations that underlie autosomal recessive disorders is indispensable for accurate genetic counseling to predict the probability of patients' children's disease. However, there have been few reports specific to the Japanese population. GJB2 mutations are reported to be the most frequent cause of hereditary hearing loss, and the mutation spectrum and frequency of GJB2 mutations were reported to vary among different ethnic groups. In this study, we investigated the carrier frequency of GJB2 mutations and the mutation spectrum in 509 individuals randomly selected from the general Japanese population. We show that the carrier frequencies of the two most common pathogenic mutations are 1.57% (8/509) for c.235delC and 1.77% (9/509) for p.Val37Ile. In addition to these mutations, we found two pathogenic variants (p.[Gly45Glu;Tyr136∗] and p.Arg143Trp), and the total carrier frequency was estimated to be around 3.73% (19/509). We also detected six unclassified variants, including two novel variants (p.Cys60Tyr and p.Phe106Leu), with the former predicted to be pathogenic. These findings will provide indispensable information for genetic counseling in the Japanese population.

元の言語English
ページ(範囲)613-617
ページ数5
ジャーナルJournal of Human Genetics
60
発行部数10
DOI
出版物ステータスPublished - 01-10-2015

    フィンガープリント

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

これを引用

Taniguchi, M., Matsuo, H., Shimizu, S., Nakayama, A., Suzuki, K., Hamajima, N., Shinomiya, N., Nishio, S., Kosugi, S., Usami, S. I., Ito, J., & Kitajiri, S. I. (2015). Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population. Journal of Human Genetics, 60(10), 613-617. https://doi.org/10.1038/jhg.2015.82