title: A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family.
abstract: 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.
authors.affiliation: Department of Otolaryngology, PLA General Hospital, No. 28, Fuxing Road, Haidian District, Beijing, 100853, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Liping
authors.initials: L
authors.lastname: Guan
authors.forename: Weiping
authors.initials: W
authors.lastname: Wen
authors.forename: Yu
authors.initials: Y
authors.lastname: Lu
authors.forename: Qianyan
authors.initials: Q
authors.lastname: Zhu
authors.forename: Huijun
authors.initials: H
authors.lastname: Yuan
authors.forename: Yulan
authors.initials: Y
authors.lastname: Chen
authors.forename: Hongtian
authors.initials: H
authors.lastname: Wang
authors.forename: Jianguo
authors.initials: J
authors.lastname: Zhang
authors.forename: Huabin
authors.initials: H
authors.lastname: Li
mesh_terms: D044466:Asian People / Q000235:genetics*; D056444:Axonemal Dyneins / Q000235:genetics*; D002908:Chronic Disease; D059472:Exome; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007619:Kartagener Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012220:Rhinitis / Q000150:complications / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012852:Sinusitis / Q000150:complications / Q000235:genetics*
chemical_list: D056444:Axonemal Dyneins; C497507:DNAH5 protein, human