ArticleMedicine2020
Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient: A case report.
Article in Medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 8 citations in OpenAlex.
- From genes to generations: genetic evaluation and counseling for infertility and pregnancy loss.Frontiers in genetics · 2026Article
- In Silico Identification of lncRNAs Regulating Sperm Motility in the Turkey (International journal of molecular sciences · 2022Article
- Homozygous mutation inFrontiers in endocrinology · 2022Article
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Authors and funding
7 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAs 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.
conclusionsWe 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.
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