Gene diagnosis in patients with Kartagener syndrome induced chronic secretory otitis media
ZHANG Jing
BAI Yin
YOU Shaohua
JI Lingchao
JIA Jingjie
QUE Xin
XU Cong
WANG Hongtian
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.
Keywords：Kartagener syndromeprimary ciliary dyskinesiagene screeningexome capture and sequencingauto-somal recessive inheritance
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 41-44 )