Original Article
Analysis of DNAH1 gene variant in two infertile males with multiple morphological abnormalities of sperm flagella
Feng Ke, Wan Feng, Xia Yanqing, Yang Ke, Qu Xiaowei, Xia Song, Guo Haibin, Zhang Cuilian, Wu Dong
Published 2021-09-10
Cite as Chin J Med Genet, 2021, 38(9): 849-852. DOI: 10.3760/cma.j.cn511374-20200424-00302
Abstract
ObjectiveTo explore the clinical feature and gene variant for two cases of primary male infertility caused by severe asthenospermia and to analyze the etiology of the disease.
MethodsGenomic DNA of peripheral blood samples of patients and their parents was extracted and gene variation analysis of the patients was conducted by using whole exome sequencing. Suspected pathogenic variant was verified by Sanger sequencing and pathogenic analysis.
ResultsWhole exome sequencing showed that the DNAH1 gene of patient 1 had two heterozygous variants of c. 2016T>G (p.Y672X) and c. 6017T>G (p.V2006G). The DNAH1 gene of patient 2 had a homozygous variant of c. 2610G >A(p.W870X), which were inherited from his father and mother, respectively. According to American College of Medical Genetics and Genomics standards and guidelines, the c. 2016T>G(p.Y672X) and c. 2610G>A(p.W870X) varaints of DNAH1 gene were predicted to be pathogenic(PVS1+ PM2+ PM3+ PP3).
ConclusionThe two patients of multiple morphological abnormalities of the sperm flagella may be caused by DNAH1 gene variant, which has resulted in primary male infertility.
Key words:
DNAH1 gene; Gene variant; Whole exome sequencing; Multiple morphological abnormalities of sperm flagella; Male infertility
Contributor Information
Feng Ke
Center for Reproductive Medicine, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Henan Provincial People’s Hospital of Henan University, Zhengzhou, Henan 450003, China
Wan Feng
Center for Reproductive Medicine, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Henan Provincial People’s Hospital of Henan University, Zhengzhou, Henan 450003, China
Xia Yanqing
Center for Reproductive Medicine, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Henan Provincial People’s Hospital of Henan University, Zhengzhou, Henan 450003, China
Yang Ke
Medical Genetic Institute of Henan Province, Zhengzhou, Henan 450003, China
Qu Xiaowei
Center for Reproductive Medicine, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Henan Provincial People’s Hospital of Henan University, Zhengzhou, Henan 450003, China
Xia Song
Center for Reproductive Medicine, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Henan Provincial People’s Hospital of Henan University, Zhengzhou, Henan 450003, China
Guo Haibin
Center for Reproductive Medicine, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Henan Provincial People’s Hospital of Henan University, Zhengzhou, Henan 450003, China
Zhang Cuilian
Center for Reproductive Medicine, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Henan Provincial People’s Hospital of Henan University, Zhengzhou, Henan 450003, China
Wu Dong
Medical Genetic Institute of Henan Province, Zhengzhou, Henan 450003, China
