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Article

A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families.

Asian journal of andrology - 1 Mar 2025

Hussain Ansar, Zhang Huan, Zubair Muhammad, Shah Wasim, Khan Khalid, Ali Imtiaz, Raza Yousaf, Zeb Aurang, Abbas Tanveer, Ahmed Nisar, Rahim Fazal, Mustafa Ghulam, Uddin Meftah, Ullah Nadeem, Abbas Musavir, Khan Muzammil Ahmad, Ma Hui, Yang Bo, Shi Qing-Hua

Abstract excerpt

ABSTRACT: Multiple morphological abnormalities of the flagella (MMAF) represent a severe form of sperm defects leading to asthenozoospermia and male infertility. In this study, we identified a novel homozygous splicing mutation (c.871-4 ACA>A) in the adenylate kinase 7 (AK7) gene by whole-exome sequencing in infertile individuals. Spermatozoa from affected individuals exhibited typical MMAF characteristics,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39254435
DOI: 10.4103/aja202471
PMCID: PMC11949454

Genes

AK7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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