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Discovery of a Pathogenic NME5 Variant Underlying Acephalic Spermatozoa Syndrome: Unraveling a Novel Genotype-Phenotype Association in Male Infertility.

Clinical genetics - 1 Feb 2026

Tian Yunchuan, Zhang Yingteng, Tang Xinyao, Zhao Chanjuan, Jiang Xiaohui, Shen Gan, Wang Xiang, Jiang Chuan, Ruan Tiechao, Ma Jun, Duan Li, Shen Ying

Abstract excerpt

Acephalic spermatozoa syndrome (ASS) is a severe form of male infertility, but its genetic etiology remains largely unclear. In this study, we identified a novel homozygous frameshift variant in NME5 (c.163delA, p.Ser55Valfs*16) in an infertile man with ASS. Subsequent functional analyses revealed complete loss of NME5 protein. Moreover, ultrastructural analysis of sperm revealed abnormalities in the head-tail...

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Share to Frameshift Mutation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Sperm Injections, Intracytoplasmic

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Source

Identifiers

PMID: 41499646
DOI: 10.1111/cge.70049

Genes

NME5
SPATA6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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