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

作者：Zhang, Jing; Guan, Liping; Wen, Weiping; Lu, Yu; Zhu, Qianyan; Yuan, Huijun; Chen, Yulan; Wang, Hongtian^*; Zhang, Jianguo; Li, Huabin

来源：European Archives of Oto-Rhino-Laryngology, 2014, 271(6): 1589-1594.

DOI：10.1007/s00405-013-2788-2

• Chronic rhinosinusitis
• Exome capture
• Sequencing
• Primary ciliary dyskinesia
• DNAH5

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.

• 出版日期2014-6
• 单位中山大学; 深圳华大生命科学研究院; 中国人民解放军总医院