High frequency and mid frequency hearing loss caused by KCNQ4 gene mutations

2016 Fiscal Year Final Research Report

• Project/Area Number: 26462556
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Otorhinolaryngology
• Research Institution: Shinshu University
• Principal Investigator: NAITO Takehiko 信州大学, 医学部附属病院, 医員 (50467164)
• Co-Investigator(Renkei-kenkyūsha): USAMI Shin-ichi 信州大学, 学術研究院医学系, 教授 (10184996) ; NISHIO Shin-ya 信州大学, 学術研究院医学系, 助教 (70467166)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 難聴 / 遺伝子 / KCNQ4

Outline of Final Research Achievements

The present study of KCNQ4 mutations was carried out to determine the prevalence by unbiased population-basedgenetic screening, clarify the mutation spectrum and genotype/phenotype correlations, and summarize clinical characteristics. The screening using 609 probands from unbiased Japanese autosomal dominant nonsyndromic hearing loss families identified 54 families with 21 different disease causing mutations.
The present study adds a new typical audiogram configuration characterized by mid-frequency predominant hearing loss caused by the p.V230E mutation. A variant at the N-terminal site showed typical ski-slope type audiogram configuration. Concerning clinical features, onset age was from 3 to 40 years old, and mostly in the teens, and hearing loss was gradually progressive. Progressive nature is a common feature of patients with KCNQ4 mutations regardless of the mutation type. However, hearing loss progression pattern was quite differ among the mutation site.

Free Research Field

耳鼻咽喉科学