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Article

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.

American journal of human genetics - 6 Oct 2016

Zhu Fuxi, Wang Fengsong, Yang Xiaoyu, Zhang Jingjing, Wu Huan, Zhang Zhou, Zhang Zhiguo, He Xiaojin, Zhou Ping, Wei Zhaolian, Gecz Jozef, Cao Yunxia

Abstract excerpt

Acephalic spermatozoa syndrome is a rare and severe form of teratozoospermia characterized by a predominance of headless spermatozoa in the ejaculate. Family clustering and consanguinity suggest a genetic origin; however, causative mutations have yet to be identified. We performed whole-exome sequencing in two unrelated infertile men and subsequent variant filtering identified one homozygous (c.824C>T...

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Identifiers

PMID: 27640305
DOI: 10.1016/j.ajhg.2016.08.004
PMCID: PMC5065659

Genes

SUN5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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