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- Title
Novel Bi-Allelic Variants of FANCM Cause Sertoli Cell-Only Syndrome and Non-Obstructive Azoospermia.
- Authors
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.
- Subjects
GENETIC variation; HEMATOXYLIN &; eosin staining; FANCONI'S anemia; PHENOTYPES; SYNDROMES; MALE infertility; OLIGOSPERMIA
- Publication
Frontiers in Genetics, 2021, Vol 12, p1
- ISSN
1664-8021
- Publication type
Article
- DOI
10.3389/fgene.2021.799886