Department of Otolaryngology, PLA General Hospital, No. 28, Fuxing Road, Haidian District, Beijing, 100853, China.
Eur Arch Otorhinolaryngol. 2014 Jun;271(6):1589-94. doi: 10.1007/s00405-013-2788-2. Epub 2013 Oct 23.
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.
慢性鼻-鼻窦炎（CRS）发病机制的遗传因素尚不清楚。本研究从地理上分散的中国汉族人群中鉴定出 4 例 CRS 和原发性纤毛运动障碍（PCD）相关患者，并对 1 例受影响个体和未受影响的父母进行外显子捕获和测序。我们在 CRS 和 PCD 中发现了 DNAH5 中的一个新突变（c.8030G>A），该突变与囊性纤维化和一个中国家庭纤毛运动缺陷中的突变不同，该家庭通过外显子捕获和测序鉴定。我们的研究结果表明，DNAH5 的 c.8030G>A 可能与该中国家庭的 CRS 和 PCD 的致病基因有关，这可能扩展了临床医生对 CRS 发病机制的认识。此外，DNAH5 中该新突变的鉴定间接表明外显子捕获和测序有益于对小型近亲家庭的遗传研究。
