Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella(MMAF)and ICSI outcomes
作者机构：Reproductive Medicine CenterDepartment of Obstetrics and Gynecologythe First Affiliated Hospital of Anhui Medical UniversityHefei 230022China Department of Obstetrics and GynecologyFuyang Hospital of Anhui Medical UniversityFuyang 236112China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract(Anhui Medical University)Hefei 230032China Key Laboratory of Population Health Across Life Cycle(Anhui Medical University)Ministry of Education of the People'sRepublicof ChinaHefei 230032China
出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)
年 卷 期：2024年第26卷第1期
页 面：91-98页
核心收录：
学科分类：1002[医学-临床医学] 100210[医学-外科学(含：普外、骨外、泌尿外、胸心外、神外、整形、烧伤、野战外)] 10[医学]
基 金：This work was supported by the National Natural Science Foundation of China(No.82071705) University Outstanding Youth Program of Anhui Provincial Education Department(2022AH030113) University Outstanding Young Talents Support Program(gxyq2021174) Postgraduate Innovation Research and Practice Program of Anhui Medical University(No.YJS20210327)
主 题：asthenoteratospermia DNAH6 intracytoplasmic sperm injection male infertility
摘 要：Variations in the dynein axonemal heavy chain gene,dynein axonemal heavy chain 6(DNAH6),lead to multiple morphological abnormalities of the *** studies have reported that these deficiencies may result in sperm head ***,whether DNAH6 is also involved in human acrosome biogenesis remains *** purpose of this study was to investigate DNAH6 gene variants and their potential functions in the formation of defective sperm heads and ***-exome sequencing was performed on a cohort of 375 patients with asthenoteratozoospermia from the First Affiliated Hospital of Anhui Medical University(Hefei,China).Hematoxylin and eosin staining,scanning electron microscopy,and transmission electron microscopy were performed to analyze the sperm morphology and *** staining and Western blot analysis were conducted to examine the effects of genetic *** identified three novel deleterious variants in DNAH6 among three unrelated *** absence of inner dynein arms and radial spokes was observed in the sperm of patients with DNAH6 ***,deficiencies in the acrosome,abnormal chromatin compaction,and vacuole-containing sperm heads were observed in these patients with DNAH6 *** decreased levels of the component proteins in these defective structures were further confirmed in sperm from patients with DNAH6 variants using Western *** intracytoplasmic sperm injection(ICSl)treatment,the partner of one patient with a DNAH6 variant achieved successful ***,novel variants in DNAH6 genes that contribute to defects in the sperm head and flagella were identified,and the findings indicated Icsl as an effective clinical treatment for such patients.
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