Biallelic variants in DNAH11 cause male infertility with asthenozoospermia in a Chinese non-consanguineous family: A case report.

ABSTRACT:

Rationale

Asthenozoospermia (AZS), a leading cause of male infertility, frequently results from genetic defects that disrupt flagellar assembly. Mutations in the DNAH11 gene can cause abnormal dynein arm structures, leading to AZS and impaired male fertility. However, current evidence regarding DNAH11 mutations in male infertility remains limited, warranting further exploration of their pathogenic mechanisms.

Patient concerns

A 35-year-old Chinese male presented with primary infertility and AZS.

Diagnoses

Whole-exome sequencing was performed on the proband to identify the potential genetic etiology, followed by Sanger sequencing validation of candidate variants in both the proband and his parents. A novel compound heterozygous mutation in the DNAH11 gene - comprising

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC12708164 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature