Whole exome sequencing analyses in a cohort of 1,030 patients with premature ovarian insufficiency identify new likely pathogenic variants associated with the condition, and reveal distinct genetic architectures between primary and secondary amenorrhea.
, and this report described their variants in women with POI, implying that these meiotic genes are shared genetic determinants in both female and male human gametogenesis.
Due to the limitations of WES, systematic analyses of non-coding regions, copy number variations and structural variations in POI were not conducted here. Beyond these technical limitations, our sample size in this cohort still lacks sufficient statistical power to detect much rarer associated genes due to the high genetic heterogeneity of POI. One indication of this heterogeneity is the lack of significance in a large proportion of known POI-causative genes.
In summary, this study provides a detailed characterization of pathogenic variants in POI, broadening the scope of known POI-associated genes, to depict the genetic landscape of this disease. Larger cohort size, parent-proband trio sequencing, advanced genomic technologies and international collaborative studies are critical for overcoming the limitations of this study to further determine the genetic etiologies of POI.
Exome sequencing was performed on genomic DNAs extracted from peripheral blood samples of all 1,030 patients with POI, captured with AIExome V1-CNV and sequenced on NovaSeq platforms with 150-bp paired-end reads. Sequence reads were aligned to the human reference genome GRCh37/hg19 using Burrows–Wheeler Aligner MEM
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