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Online First

10.4103/aja202432

A novel missense mutation of CCDC34 causes male infertility with oligoasthenoteratozoospermia in a consanguineous Pakistani family

Ahmad, Nisar*; Yang, Meng-Lei*; Zeb, Aurang; Zhou, Jian-Teng; Zubair, Muhammad; Abbas, Tanveer; Jiang, Xiao-Hua; Zhang, Yuan-Wei; Zhang, Huan; Shah, Wasim; Shi, Qing-Hua

Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China

Correspondence: Dr. W Shah (shah86@ustc.edu.cn) or Dr. QH Shi (qshi@ustc.edu.cn)

Originally published: June 11, 2024 Received: December 6, 2023 Accepted: March 24, 2024

Abstract

Male infertility is a worldwide health issue, affecting 8%–12% of the global population. Oligoasthenoteratozoospermia (OAT) represents a severe type of male infertility, characterized by reduced sperm count and motility and an increased frequency of sperm with aberrant morphology. Using whole-exome sequencing, this study identified a novel missense mutation (c.848C>A, p.A283E) in the coiled-coil domain-containing 34 gene (CCDC34) in a consanguineous Pakistani family. This rare mutation was predicted to be deleterious and to affect the protein stability. Hematoxylin and eosin staining of spermatozoa from the patient with OAT revealed multiple morphological abnormalities of the flagella and transmission electron microscopy indicated axonemal ultrastructural defects with a lack of outer dynein arms. These findings indicated that CCDC34 plays a role in maintaining the axonemal ultrastructure and the assembly or stability of the outer dynein arms, thus expanding the phenotypic spectrum of CCDC34 missense mutations.

Keywords: CCDC34; consanguineous family; male infertility; missense mutation; oligoasthenoteratozoospermia

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Asian Journal of Andrology CN 31-1795/R ISSN 1008-682X  Copyright © 2023  Shanghai Materia Medica, Chinese Academy of Sciences.  All rights reserved.