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Volume 25, Issue 3 (May 2023) 25, 350–355; 10.4103/aja202274
A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family
Sobia Dil, Asad Khan, Ahsanullah Unar, Meng-Lei Yang, Imtiaz Ali, Aurang Zeb, Huan Zhang, Jian-Teng Zhou, Muhammad Zubair, Khalid Khan, Shun Bai, Qing-Hua Shi
Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei 230027, China
Correspondence: Dr. QH Shi (qshi@ustc.edu.cn) or Dr. S Bai (shunbai@ustc.edu.cn)
28-Oct-2022
| Abstract |
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Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate. Whole-exome sequencing (WES) is used to detect pathogenic variants in patients with MMAF. In this study, a novel homozygous frameshift variant (c.6158_6159insT) in dynein axonemal heavy chain 8 (DNAH8) from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation. Hematoxylin–eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients. Furthermore, an immunofluorescence assay showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients' spermatozoa. Collectively, our study expands the phenotypic spectrum of patients with DNAH8-related MMAF worldwide.
Keywords: DNAH8; gene mutation; male infertility; multiple morphological abnormalities of the sperm flagella
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