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

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

机构地区：[1]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

出　　处：《Asian Journal of Andrology》2024年第6期605-609,共5页亚洲男性学杂志（英文版）

基　　金：supported by the National Natural Science Foundation of China(No.82071709,No.32070850,and No.82171601);the National Key Research and Developmental Program of China(2022YFC2702601 and 2022YFA0806303);the Joint Fund for New Medicine of USTC(YD9100002034).

摘　　要：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.

关 键 词：CCDC34 consanguineous family male infertility missense mutation OLIGOASTHENOTERATOZOOSPERMIA 

分 类 号：R698.2[医药卫生—泌尿科学]