南方科技大学知识苑(SUSTech KC): Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia

题名	Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia
作者	Ye, Yutian 1; Huang, Qijun 1; Chen, Lipeng 2; Yuan, Fang 1; Liu, Shengguo 1; Zhang, Xiangxia 1; Chen, Rongchang 1,3; Fu, Yingyun 1; Yue, Yongjian 1
通讯作者	Chen, Rongchang; Fu, Yingyun; Yue, Yongjian
发表日期	2022-07-01
DOI	10.1002/ajmg.a.62912
发表期刊	AMERICAN JOURNAL OF MEDICAL GENETICS PART A 影响因子和分区
ISSN	1552-4825
EISSN	1552-4833
摘要	The genetic factors contributing to primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder, remain elusive for similar to 20%-35% of patients with complex and abnormal clinical phenotypes. Our study aimed to identify causative variants of PCD-associated pathogenic candidate genes using whole-exome sequencing (WES). All patients were diagnosed with PCD based on clinical phenotype or transmission electron microscopy images of cilia. WES and bioinformatic analysis were then conducted on patients with PCD. Identified candidate variants were validated by Sanger sequencing. Pathogenicity of candidate variants was then evaluated using in silico software and the American College of Medical Genetics and Genomics (ACMG) database. In total, 13 rare variants were identified in patients with PCD, among which were three homozygous causative variants (including one splicing variant) in the PCD-associated genes CCDC40 and DNAI1. Moreover, two stop-gain heterozygous variants of DNAAF3 and DNAH1 were classified as pathogenic variants based on the ACMG criteria. This study identified novel potential pathogenic genetic factors associated with PCD. Noteworthy, the patients with PCD carried multiple rare causative gene variants, thereby suggesting that known causative genes along with other functional genes should be considered for such heterogeneous genetic disorders.
关键词	DNAAF3 DNAI1 pathogenic primary ciliary dyskinesia whole-exome sequencing
相关链接	[来源记录]
收录类别	SCI
语种	英语
学校署名	第一 ; 通讯
资助项目	Guangdong Provincial Science and Technology Project["2018A030310674","2021A1515012325"] ; Key Laboratory of Shenzhen Respiratory Diseases[ZDSYS201504301616234] ; Natural Science Foundation of Guangdong Province[2017A020214016] ; Shenzhen Science and Technology Project[JCYJ20170413093032806]
WOS研究方向	Genetics & Heredity
WOS类目	Genetics & Heredity
WOS记录号	WOS:000829050600001
出版者	WILEY
ESI学科分类	MOLECULAR BIOLOGY & GENETICS
来源库	Web of Science
引用统计	被引频次[WOS]：0
成果类型	期刊论文
条目标识符	http://sustech.caswiz.com/handle/2SGJ60CL/359491
专题	南方科技大学第一附属医院
作者单位	1.Jinan Univ, Clin Med Coll 2, Shenzhen Inst Resp Dis,Affiliated Hosp 1, Southern Univ Sci & Technol,Shenzhen Peoples Hosp, Shenzhen, Guangdong, Peoples R China 2.Jinan Univ, Clin Med Coll 2, Clin Ctr, Shenzhen Peoples Hosp, Shenzhen, Guangdong, Peoples R China 3.Guangzhou Med Univ, Affiliated Hosp 1, State Key Lab Respirat Dis, Guangzhou, Guangdong, Peoples R China
第一作者单位	南方科技大学第一附属医院
通讯作者单位	南方科技大学第一附属医院
第一作者的第一单位	南方科技大学第一附属医院
推荐引用方式 GB/T 7714	Ye, Yutian,Huang, Qijun,Chen, Lipeng,et al. Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A,2022.
APA	Ye, Yutian.,Huang, Qijun.,Chen, Lipeng.,Yuan, Fang.,Liu, Shengguo.,...&Yue, Yongjian.(2022).Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia.AMERICAN JOURNAL OF MEDICAL GENETICS PART A.
MLA	Ye, Yutian,et al."Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia".AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022).