Author:
Zhang Yuxiang,Li Peng,Liu Nachuan,Jing Tao,Ji Zhiyong,Yang Chao,Zhao Liangyu,Tian Ruhui,Chen Huixing,Huang Yuhua,Zhi Erlei,Ou Ningjing,Bai Haowei,Zhou Yuchuan,Li Zheng,Yao Chencheng
Abstract
Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for the majority of NOA remain unknown. FANCM is a member of Fanconi Anemia (FA) core complex, whose defects are associated with cell hypersensitivity to DNA interstrand crosslink (ICL)-inducing agents. It was reported that variants in FANCM (MIM: 609644) might cause azoospermia or oligospermia. However, there is still a lack of evidence to explain the association between different FANCM variants and male infertility phenotypes. Herein, we identified compound heterozygous variants in FANCM in two NOA-affected brothers (c. 1778delG:p. R593Qfs*76 and c. 1663G > T:p. V555F), and a homozygous variant in FANCM (c. 1972C > T:p. R658X) in a sporadic case with NOA, respectively. H&E staining and immunohistochemistry showed Sertoli cell-only Syndrome (SCOS) in the three patients with NOA. Collectively, our study expands the knowledge of variants in FANCM, and provides a new insight to understand the genetic etiology of NOA.
Funder
National Natural Science Foundation of China
Shanghai Hospital Development Center
Shanghai General Hospital
Key Research and Development Program of Ningxia
Subject
Genetics (clinical),Genetics,Molecular Medicine
Cited by
8 articles.
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