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Online First

10.4103/aja202160

MBOAT1 homozygous missense variant causes nonobstructive azoospermia

Yang-Yang Wan1, Lan Guo2, Yao Yao2, Xiao-Yun Shi2, Hui Jiang3, Bo Xu4, Juan Hua2, Xian-Sheng Zhang1

1 Department of Urology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China
2 Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Anhui Medical University, Hefei 230032, China
3 The Department of Urology, Peking University Third Hospital, Peking 100191, China
4 Reproductive and Genetic Hospital, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230001, China

Correspondence: Dr. J Hua (hjhuajuan@163.com) or Dr. XS Zhang (xiansheng-zhang@163.com)

24-Sep-2021

Abstract

Nonobstructive azoospermia (NOA) is a common cause of infertility and is defined as the complete absence of sperm in ejaculation due to defective spermatogenesis. The aim of this study was to identify the genetic etiology of NOA in an infertile male from a Chinese consanguineous family. A homozygous missense variant of the membrane-bound O-acyltransferase domain-containing 1 (MBOAT1) gene (c.770C>T, p.Thr257Met) was found by whole-exome sequencing (WES). Bioinformatic analysis also showed that this variant was a pathogenic variant and that the amino acid residue in MBOAT1 was highly conserved in mammals. Quantitative polymerase chain reaction (Q-PCR) analysis showed that the mRNA level of MBOAT1 in the patient was 22.0% lower than that in his father. Furthermore, we screened variants of MBOAT1 in a broader population and found an additional homozygous variant of the MBOAT1 gene in 123 infertile men. Our data identified homozygous variants of the MBOAT1 gene associated with male infertility. This study will provide new insights for researchers to understand the molecular mechanisms of male infertility and will help clinicians make accurate diagnoses.

Keywords: male infertility; membrane-bound O-acyltransferase domain-containing 1; nonobstructive azoospermia; whole-exome sequencing

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