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

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

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...

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Bibliographic Details
Main Authors: Ansar Hussain, Huan Zhang, Muhammad Zubair, Wasim Shah, Khalid Khan, Imtiaz Ali, Yousaf Raza, Aurang Zeb, Tanveer Abbas, Nisar Ahmed, Fazal Rahim, Ghulam Mustafa, Meftah Uddin, Nadeem Ullah, Musavir Abbas, Muzammil Ahmad Khan, Hui Ma, Bo Yang, Qing-Hua Shi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-03-01
Series:Asian Journal of Andrology
Subjects:
ak7
asthenozoospermia
male infertility
multiple morphological anomalies of the flagella
Online Access:https://journals.lww.com/10.4103/aja202471
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