Conprehensive analysis of deafness genes in families in Okinawa islands

2015 Fiscal Year Final Research Report

• Project/Area Number: 25462649
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Otorhinolaryngology
• Research Institution: University of the Ryukyus
• Principal Investigator: GANAHA AKIRA 琉球大学, 医学部附属病院, 講師 (00347155)
• Co-Investigator(Kenkyū-buntansha): KANAME TADASHI 国立成育医療研究センター, ゲノム医療研究部, 部長 (40264288)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 遺伝性難聴 / 遺伝子解析 / 次世代シークエンサー / 沖縄

Outline of Final Research Achievements

In this study, a targeted next generation resequencing panel including 98 known hearing loss genes was used to identify the genetic etiology in patients with congenital or progressive hearing loss. 51 unrelated families with syndromic or non-syndromic hearingloss were recruited. In 25 of 51 hearing loss families we identified pathogenic mutations. Among these mutations, 14 were novel mutations. Mutations in SLC26A4 and SLC26A4 were frequent and important causes of hearing loss in Okinawa islands. Mutation detection rate of our study is 49%, indicating the usefulness of our targeted sequencing panel in Okinawa islands. The mutation in GJB2 was identified in one family. GJB2 was not most common causative gene for hearing loss in Okinawa. The present data suggeste a difference in the spectrum of causative genes for hearing loss among patients in Okinawa Islands compared with patients in the main lands Japan.

Free Research Field

聴覚