High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.

J Endocr Soc · 2022 · PMC9309801 · PMID 35898701

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uncertain significance levelno p-value reported

DNA sequencing analysis identified 1 pathogenic variant in LMNA , 3 likely pathogenic variants in INSR , PIK3R1 , and DLK1 , and 6 variants of uncertain significance level with interesting biologic rationale in 5 genes ( LMNA , GATA4 , NR5A1 , BMP15 , and FSHR ).

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