A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family

• Published in: European archives of oto-rhino-laryngology Vol. 271; no. 6; pp. 1589 - 1594
• Main Authors: Zhang, Jing, Guan, Liping, Wen, Weiping, Lu, Yu, Zhu, Qianyan, Yuan, Huijun, Chen, Yulan, Wang, Hongtian, Zhang, Jianguo, Li, Huabin
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.06.2014
• Subjects: Asian Continental Ancestry Group - genetics; Axonemal Dyneins - genetics; Chronic Disease; Exome; Family; Female; Genetic Predisposition to Disease; Head and Neck Surgery; Humans; Kartagener Syndrome - complications; Kartagener Syndrome - genetics; Male; Medicine; Medicine & Public Health; Neurosurgery; Otorhinolaryngology; Pedigree; Rhinitis - complications; Rhinitis - genetics; Rhinology; Sequence Analysis, DNA; Sinusitis - complications; Sinusitis - genetics; Exome capture; Chronic rhinosinusitis; Primary ciliary dyskinesia; Sequencing; DNAH5
• ISSN: 0937-4477; 1434-4726
• DOI: 10.1007/s00405-013-2788-2

The genetic factors underlying the pathogenesis of chronic rhinosinusitis (CRS) remains unclear. We herein identified four related subjects with CRS and primary ciliary dyskinesia (PCD) from geographically disperse Chinese Han communities and performed exome capture and sequencing of one affected individual and unaffected parents. We found a novel mutation in DNAH5 (c. 8030G>A) in CRS and PCD which was different from those attributed to cystic fibrosis and a defect of cilia motility in a Chinese family through exome capture and sequencing. Our findings showed that c. 8030G>A of DNAH5 may be implicated as the disease-causing gene of CRS and PCD in this Chinese family, which may expand the understanding of clinicians on the pathogenesis of CRS. Moreover, the identification of this novel mutation in DNAH5 indirectly indicates that exome capture and sequencing are beneficial in the genetic research of midget consanguinity families.