Biallelic nonsense variants in GAS8 associated with asthenoteratozoospermia and PCD-like symptoms.

Authors

Mingjia Zhao, Shuyu Guo, Lanxi Ran, Yue Meng, Yijia Zhao, Jing Wang, Binbin Wang

Published in

Journal of human genetics. Sep 04, 2026. Epub Sep 04, 2026.

Abstract

We report a 28-year-old infertile male presenting with markedly reduced progressive sperm motility and severe morphological abnormalities (normal morphology rate: 1%), accompanied by primary ciliary dyskinesia (PCD)-like symptoms, including chronic rhinitis, adolescent nasal polypectomy, and persistent rhinorrhea. Transmission electron microscopy (TEM) revealed ultrastructural defects involving the sperm head, nucleus, and flagellar axoneme. Whole-exome sequencing (WES) identified two novel compound heterozygous nonsense variants in the GAS8 gene: c.280 G > T (p.Glu94Ter) and c.382 C > T (p.Gln128Ter). Based on these findings, testicular sperm aspiration (TESA) combined with intracytoplasmic sperm injection (ICSI) was performed, resulting in a biochemical pregnancy. This case expands the mutational and phenotypic spectrum of GAS8 and provides additional clinical evidence relevant to genetic diagnosis, genetic counseling, and assisted reproductive management of male infertility accompanied by PCD-like symptoms.

PMID:
42697961
Bibliographic data and abstract were imported from PubMed on 05 Sep 2026.

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