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Volume 24, Issue 3 (May 2022) 24, 255–259; 10.4103/aja2021122

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms

Muhammad Zubair1, Ranjha Khan1, Ao Ma1, Uzma Hameed2, Mazhar Khan1, Tanveer Abbas1, Riaz Ahmad3, Jian-Teng Zhou1, Wasim Shah1, Ansar Hussain1, Nisar Ahmed1, Ihsan Khan1, Khalid Khan1, Yuan-Wei Zhang1, Huan Zhang1, Li-Min Wu1, Qing-Hua Shi1

1 The First Affiliated Hospital of USTC, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei 230027, China
2 Institute of Industrial Biotechnology, Government College University, Lahore 54000, Pakistan
3 Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad 45320, Pakistan

Correspondence: Dr. LM Wu (wlm@ustc.edu.cn) or Dr. QH Shi (qshi@ustc.edu.cn)

Date of Submission 03-Aug-2021 Date of Acceptance 29-Dec-2021 Date of Web Publication 04-Mar-2022


Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most cases are due to mutations in genes encoding the components of sperm flagella, which have an ultrastructure similar to that of motile cilia. Coiled-coil domain containing 103 (CCDC103) is an outer dynein arm assembly factor, and pathogenic variants of CCDC103 cause primary ciliary dyskinesia (PCD). However, whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be determined. Whole-exome sequencing (WES) was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family. A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified (ENST00000035776.2, c.461A>C, p.His154Pro). CCDC103 p.His154Pro was previously reported as a high prevalence mutation causing PCD, though the reproductive phenotype of these PCD individuals is unknown. Transmission electron microscopy (TEM) of affected individuals' spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms, similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation. Thus, our findings expand the phenotype spectrum of CCDC103 p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.

Keywords: asthenoteratozoospermia; CCDC103; dynein arms; male infertility

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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.