Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient: A case report

摘要

Introduction: As one of the most common causes of male infertility, asthenozoospermia mainly shows low sperm motility, accounting for 81.84% of male infertility patients. Recently, there has been a notable increase for relationship between genetic testing and asthenozoospermia. In this report, we design to provide clues to prove relationship between dynein heavy chain gene 5 ( DNAH5) gene alterations and asthenozoospermia. This also provides a reference for patients to choose a reasonable treatment plan or genetic counseling to assist reproductive reproduction. Patients concern: In the present study, we screened 143 patients with asthenozoospermia for variants in DNAH5 gene . We used high-throughput targeted gene sequencing technology and the data were assessed by bioinformatics analysis . Diagnosis: We found 1 of 143 asthenozoospermia patients was detected as carrying DNAH5 compound heterozygous variants (c.3502GA and c.2578–11_2578-7del). Outcomes: The variation c.2578-11_2578-7del was predicted in silico to not affect the splicing by HSF3. The variation c.3502G A (p.E1168K) may cause disease by Mutationtaster software. They may contribute to a risk of male infertility in Chinese patients. Conclusions: We discussed the possible association between mutations in DNAH5 and asthenospermia for the first time in Chinese people. If confirmed in larger samples and different races, this result was meaningful for a better diagnosis of asthenospermia patients.