Title | Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia |
Author | |
Corresponding Author | Chen, Rongchang; Fu, Yingyun; Yue, Yongjian |
Publication Years | 2022-07-01
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DOI | |
Source Title | |
ISSN | 1552-4825
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EISSN | 1552-4833
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Abstract | 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. |
Keywords | |
URL | [Source Record] |
Indexed By | |
Language | English
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SUSTech Authorship | First
; Corresponding
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Funding Project | 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]
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WOS Research Area | Genetics & Heredity
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WOS Subject | Genetics & Heredity
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WOS Accession No | WOS:000829050600001
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Publisher | |
ESI Research Field | MOLECULAR BIOLOGY & GENETICS
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Data Source | Web of Science
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Citation statistics |
Cited Times [WOS]:0
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Document Type | Journal Article |
Identifier | http://kc.sustech.edu.cn/handle/2SGJ60CL/359491 |
Department | Shenzhen People's Hospital |
Affiliation | 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 |
First Author Affilication | Shenzhen People's Hospital |
Corresponding Author Affilication | Shenzhen People's Hospital |
First Author's First Affilication | Shenzhen People's Hospital |
Recommended Citation 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.
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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.
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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).
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