Elucidation of novel genes causing auditory neuropathy

2014 Fiscal Year Final Research Report

• Project/Area Number: 24390391
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Otorhinolaryngology
• Research Institution: 独立行政法人国立病院機構(東京医療センター臨床研究センター)
• Principal Investigator: MATSUNAGA Tatsuo 独立行政法人国立病院機構(東京医療センター臨床研究センター), 聴覚・平衡覚研究部, 室長 (90245580)
• Co-Investigator(Kenkyū-buntansha): MIYA Fuyuki 独立行政法人理化学研究所, 統合生命医科学研究センター, リサーチアソシエイト (50415311) ; MUTAI Hideki 東京医療センター, 臨床研究センター聴覚障害研究室, 研究員 (60415891) ; KUDOH Jun 慶應義塾大学医学部, 遺伝子医学研究室, 教授 (80178003)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 遺伝子 / 医療・福祉 / ゲノム / 脳神経疾患 / バイオテクノロジー

Outline of Final Research Achievements

Auditory Neuropathy (AN) is a new concept of hearing loss with the clinical feature of poor recognition of words. The purpose of this study is to reveal novel genetic causes of AN. By Sanger sequencing analysis in 36 patients with AN, we detected 11 novel OTOF mutations in 25 patients and 1 known GJB2 mutation in a patient. By whole genome SNP analysis followed by real time PCR analysis in 4 patients with monoallelic OTOF mutations, we did not detect large deletions in OTOF. With exome analysis in 10 patients who had not been found genetic causes by previous genetic analyses, we detected 3 candidates of novel AN genes (PNPLA3, RYR3, TACC2) and a novel OPA1 mutation which is likely to be a de novo mutation.

Free Research Field

医歯薬学