ANKRD31 is a scaffolding protein essential for meiotic DNA double-strand break (DSB) formation and the spatiotemporal regulation of meiotic recombination 1. It functions as a key component of DSB-promoting protein complexes assembled on meiotic chromosome 5, anchoring REC114 and other recombination factors to specific genomic locations 2. ANKRD31 regulates the timing and distribution of DSBs across the genome and ensures formation of specialized recombination patterns in pseudoautosomal regions (PARs) of sex chr5; deficiency causes delayed recombination initiation and loss of PAR-enriched DSB-promoting proteins, resulting in failure of sex chromosome 5 formation 1. Pathogenic variants in ANKRD31 have been identified in patients with premature ovarian insufficiency (POI), wherein variants disrupt interaction with REC114 through haploinsufficiency effects, indicating dosage-dependent pathogenic mechanisms 2. ANKRD31 mutations are also implicated in nonsyndromic POI and appear linked to primary ovarian insufficiency through disruption of meiotic pathways 3. Beyond reproductive dysfunction, ANKRD31 variants have been detected in patients with Rett syndrome-like neurodevelopmental phenotypes 4, though the mechanistic basis remains unclear. Clinically, genetic screening for ANKRD31 variants is recommended in POI patients for improved genetic counseling and disease management.