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

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.3502G>A 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.