前庭水管拡大を伴った小児難聴症例 : 遺伝的背景から新たなPDS遺伝子変異が確認された1家系  [in Japanese] A Case of Enlarged Vestibular Aqueduct Syndrome with PDS Gene Mutations  [in Japanese]

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Abstract

前庭水管拡大症 (EVA) は感音難聴とめまいをきたす内耳奇形の一種であり, 近年その原因として<I>PDS</I>遺伝子の関与が注目されている. 当科で7年間経過観察を行っていた小児EVA症例の伯母とその息子に難聴があり, 側頭骨CT, MRI検査で前庭水管拡大を認めた. 遺伝的な背景を考慮してこの家系の<I>PDS</I>遺伝子変異を検索したところ, 2種類の新たな<I>PDS</I>遺伝子変異 (S610X, S657N) が確認された. 種々の難聴遺伝子が明らかになってきた現在, 小児難聴の診断には, 聴力検査や画像検査などとともに遺伝的背景の重要性を再認識する必要がある.

Enlarged vestibular aqueduct (EVA) is an inner ear anomaly occasionally associated with sensorineural hearing loss (SNHL) and/or dizziness. Recent genetic studies indicate that mutations in the <I>PDS</I> gene may cause EVA. A 10-year-old EVA patient who had undergone annual hearing tests for 7 years had an aunt and cousin who also had hearing loss and EVA, so genetic examinations were conducted for a possible genetic link. Two new <I>PDS</I> gene mutations, S610X and S657N, were found in all 3, including the proband. We discuss the importance of genetic analysis, which offers new insight into SNHL diagnosis and treatment in children.

Journal

  • Nippon Jibiinkoka Gakkai Kaiho

    Nippon Jibiinkoka Gakkai Kaiho 105(2), 174-177, 2002-02-20

    The Oto-Rhino-Laryngological Society of Japan, Inc.

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