A Case of Enlarged Vestibular Aqueduct Syndrome with PDS Gene Mutations.
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- Kiyomizu Kensuke
- Department of Otorhinolaryngology, Miyazaki Medical College
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- Tsuboi Yasuhiro
- Department of Otorhinolaryngology, Miyazaki Medical College
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- Tono Tetsuya
- Department of Otorhinolaryngology, Miyazaki Medical College
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- Komune Shizuo
- Department of Otorhinolaryngology, Miyazaki Medical College
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- Abe Satoko
- Department of Otorhinolaryngology, Hirosaki University
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- Shinkawa Hideichi
- Department of Otorhinolaryngology, Hirosaki University
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- Tsukamoto Koji
- Department of Otorhinolaryngology, Shinshu University
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- Usami Shinichi
- Department of Otorhinolaryngology, Shinshu University
Bibliographic Information
- Other Title
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- 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
- 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
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Abstract
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 PDS 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 PDS 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
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- Nippon Jibiinkoka Gakkai Kaiho
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Nippon Jibiinkoka Gakkai Kaiho 105 (2), 174-177, 2002
Japanese Society of Otorhinolaryngology-Head and neck surgery
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Keywords
Details 詳細情報について
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- CRID
- 1390001205007560832
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- NII Article ID
- 10008382527
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- NII Book ID
- AN00191551
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- ISSN
- 18830854
- 00306622
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- PubMed
- 11905055
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- Text Lang
- ja
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- Data Source
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- JaLC
- Crossref
- PubMed
- CiNii Articles
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- Abstract License Flag
- Disallowed
