A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family
A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family
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中国家庭慢性鼻窦炎和原发性纤毛运动障碍中 DNAH5 的新突变
DOI：
10.1007/s00405-013-2788-2
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发表时间：
2014-06
影响因子：
2.6
通讯作者：
Li, Huabin
中科院分区：
文献类型：
--
作者：
Chen, Yulan;Wang, Hongtian;Zhang, Jianguo;Li, Huabin
慢性鼻窦炎（CRS）发病机制的遗传因素尚不清楚。在此，我们从地理上分散的中国汉族社区中确定了四名相关的CRS和原发性纤毛运动障碍（PCD）患者，并对一名受影响的个体和未受影响的父母进行了外显子组捕获和测序。通过外显子组捕获和测序，我们在CRS和PCD中发现了一个新的DNAH5突变（c. 8030G> a），该突变与中国家庭中囊性纤维化和纤毛运动性缺陷的突变不同。我们的研究结果表明，DNAH5的c. 8030G>A可能是该中国家族CRS和PCD的致病基因，这可能扩大临床医生对CRS发病机制的认识。此外，这一新的DNAH5突变的发现间接表明，外显子组捕获和测序在侏儒血缘家族的遗传研究中是有益的。
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.
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影响因子：
14.2
作者：
Tieu, David D.;Kern, Robert C.;Schleimer, Robert P.
通讯作者：
Schleimer, Robert P.
影响因子：
7.2
作者：
Fokkens, Wytske J.;Lund, Valerie J.;Wormald, Peter John
通讯作者：
Wormald, Peter John
DOI：
10.1513/pats.201103-023sd
发表时间：
2011-09-01
期刊：
Proceedings of the American Thoracic Society
影响因子：
--
作者：
Zariwala, Maimoona A;Omran, Heymut;Ferkol, Thomas W
通讯作者：
Ferkol, Thomas W
DOI：
--
发表时间：
2008-08
期刊：
Zhonghua er ke za zhi = Chinese journal of pediatrics
影响因子：
--
作者：
Bao-Ping Xu;K. Shen;Ying-hui Hu;Xue-li Feng;Hui‐min Li;Z. Lang
通讯作者：
Bao-Ping Xu;K. Shen;Ying-hui Hu;Xue-li Feng;Hui‐min Li;Z. Lang
影响因子：
30.8
作者：
Olbrich, H;H채ffner, K;Omran, H
通讯作者：
Omran, H