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Article

A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome.

Journal of assisted reproduction and genetics - 1 Apr 2021

Lu Mengmeng, Kong Shuai, Xiang Mingfei, Wang Yu, Zhang Jingjing, Duan Zongliu, Zha Xiaomin, Wang Fengsong, Cao Yunxia, Zhu Fuxi

Abstract excerpt

PURPOSE: To identify the pathogenic mutation in PMFBP1 leading to acephalic spermatozoa syndrome. METHODS: Sanger sequencing was used to screen for mutations in the known pathogenic genes SUN5 and PMFBP1 in a patient with acephalic spermatozoa syndrome. Western blotting and immunofluorescence were used to detect the expression and localization of PMFBP1 in sperm. At the same time, a PMFBP1 mutant was constructed,...

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Source

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Identifiers

PMID: 33484382
DOI: 10.1007/s10815-021-02075-7
PMCID: PMC8079480

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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