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- Title
Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest.
- Authors
Chencheng Yao; Dong Hou; Zhiyong Ji; Dongmei Pang; Peng Li; Ruhui Tian; Yuxiang Zhang; Ningjing Ou; Haowei Bai; Erlei Zhi; Yuhua Huang; Yingying Qin; Jingpeng Zhao; Chenchen Wang; Zhi Zhou; Ting Guo; Zheng Li
- Abstract
The genetic causes of idiopathic premature ovarian insufficiency (POI) and nonobstructive azoospermia (NOA) remain unclear. We performed whole-exome sequencing (WES) in members of a consanguineous family with two POI and two NOA patients to screen for potential pathogenic variants for familial POI and NOA. And a homozygous variant in SPATA22 (c.400C>T:p.R134X) was identified. Histological analysis and spermatocyte spreading assay demonstrated that the spermatogenesis was arrested at a zygotene-like stage in the proband with NOA. The candidate gene was further screened in the in-house WES database of idiopathic POI-affected patients. One additional compound heterozygous variant in SPATA22 (c.900+1G>A and c.31C>T:p.R11X) was found in one patient with sporadic POI and validated by minigene assay. Thus, this is the first report identifying SPATA22 as the causative gene for human POI. Combined with the observations in the familial patient with NOA, our findings highlighted the essential role of meiotic HR genes in gametogenesis and gonadal function maintenance.
- Subjects
PREMATURE ovarian failure; AZOOSPERMIA; MEIOSIS; GENETIC variation; SPERMATOGENESIS; INDUCED ovulation; FERTILITY preservation; ARREST
- Publication
Clinical Genetics, 2022, Vol 101, Issue 5/6, p507
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.14129