Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest.
Yao C, Hou D, Ji Z, Pang D, Li P, Tian R, Zhang Y, Ou N, Bai H, Zhi E, Huang Y, Qin Y, Zhao J, Wang C, Zhou Z, Guo T, Li Z.
Yao C, et al.
Clin Genet. 2022 May;101(5-6):507-516. doi: 10.1111/cge.14129. Epub 2022 Mar 16.
Clin Genet. 2022.
PMID: 35285020
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 assa …
The candidate gene was further screened in the in-house WES database of idiopathic POI-affected patients. One additional compound heterozygo …