Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency.

Yiyang WangTing GuoHanni KeQian ZhangShan LiWei LuoYingying Qin

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Our study identified pathogenic variants of PRDM9 and ANKRD31 in POI patients, shedding new light on the contribution of meiotic DSB formation genes in ovarian development, further expanding the genetic architecture of POI.

Keyphrases

genome wide
copy number
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
dna methylation
genome wide identification
bioinformatics analysis
genome wide analysis