中华耳科学杂志Issue(1)：41-44,4.DOI:10.3969/j.issn.1672-2922.2014.01.011
Kartagener综合征合并分泌性中耳炎患者的基因诊断
Gene diagnosis in patients with Kartagener syndrome induced chronic secretory otitis media
张静 1白银 2尤少华 1籍灵超 1贾婧杰 1邱昕 1徐丛 1王洪田1
作者信息
- 1. 解放军总医院耳鼻咽喉头颈外科 北京100853
- 2. 首都医科大学附属北京安贞医院耳鼻咽喉头颈外科 北京100029
- 折叠
摘要
Abstract
Objective To make a genetic diagnosis in patients with Kartagener syndrome induced chronic secretory oti-tis media (SOM). Methods Eight patients with Kartagener syndrome and SOM were studied in Department of Otolaryngology Head Neck Surgery, Chinese PLA General Hospital from January 2010 to December 2013. Collection medical history, draw-ing family tree, pure tone audiometry, acoustic admittance examination;application of Sanger sequencing to screen hot gene, and 1 female patient and her parents were screen for hot gene mutations by whole exome sequencing. Candidate gene coding protein was 3D-protein structure simulation using Pomol software. Results 8 subjects were complicated with chronic secre-tory otitis media. Hot gene mutations were not found by Sanger sequencing. The female patient and her parents were found that c.8030G>A (P. R2677Q) mutation which located in the DNAH5. Conclusion In order to avoid misdiagnosis, patients with chronic SOM should be considered the possibility of Kartagener syndrome. Gene screening may provide genetic evi-dence for the disease.关键词
kartagener综合征/原发性纤毛运动障碍/基因筛查/全外显子组测序/常染色体隐性遗传Key words
Kartagener syndrome/primary ciliary dyskinesia/gene screening/exome capture and sequencing/auto-somal recessive inheritance分类
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张静,白银,尤少华,籍灵超,贾婧杰,邱昕,徐丛,王洪田..Kartagener综合征合并分泌性中耳炎患者的基因诊断[J].中华耳科学杂志,2014,(1):41-44,4.
