• PMID: 31841227
• Gene Name: DNAH17
• Condition: Asthenozoospermia and multiple morphological abnormalities of sperm flagella
• Association: Associated
• Mutation: .C4445T, p.A1482V and c.C6857T, and p.S2286L
• Population size: 1
• Population details: 1
• Sex: Male
• Infertility type: Male infertility
• Associated genes: NGS

DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella

Sha Y, Wei X, Ding L, Mei L, Huang X, Lin S, Su Z, Kong L, Zhang Y, Ji Z.

BACKGROUND: Multiple morphological abnormalities of the sperm flagella (MMAF) is one kind of severe asthenozoospermia, which is caused by dysplastic development of sperm flagella. In our study, we sought to investigate the novel gene mutations leading to severe asthenozoospermia and MMAF. METHODS AND MATERIALS: The patient's spermatozoa were tested by Papanicolaou staining and transmission electron microscopy. Whole exome sequencing was performed on the patient with severe asthenozoospermia and MMAF. Sanger sequencing verified the mutations in the family. The expression of DNAH17 was detected by immunofluorescence and Western blot. RESULTS: Spermatozoa sample from the patient showed severe asthenozoospermia and MMAF. We detected biallelic mutations (c.C4445T, p.A1482V and c.C6857T, and p.S2286L) in DNAH17 (MIM:610063). The protein expression of DNAH17 was almost undetectable in spermatozoa from the patient with the biallelic mutations. CONCLUSION: These results demonstrated that DNAH17 may be involved in severe asthenozoospermia and MMAF. CI - © 2019 John Wiley & Sons Ltd/University College London. FAU - Sha, Yanwei AU - Sha Y AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Wei, Xiaoli AU - Wei X AD - School of Pharmaceutical Sciences, Xiamen University, Xiamen, Fujian, China. FAU - Ding, Lu AU - Ding L AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Mei, Libin AU - Mei L AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Huang, Xianjing AU - Huang X AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Lin, Shaobin AU - Lin S AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Su, Zhiying AU - Su Z AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Kong, Lingyuan AU - Kong L AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Zhang, Yi AU - Zhang Y AD - Center for Reproductive Medicine, Affiliated Hospital of Weifang Medical University, Weifang, China.