Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.

Cengiz KarakayaAylin Pelin ÇilKaya BilguvarTunahan ÇakirMete Hakan KaralokRecep Onur KarabacakAhmet Okay Çağlayan

Published in: The journal of obstetrics and gynaecology research (2022)

We identified three novel FBN3 and FN1 variants for the first time in the literature and linked with PCOS. Further functional studies may identify causality of these newly discovered PCOS-related variants, and their role yet remains to be investigated. Our findings may improve our understanding of the biological pathways affected and identify new drug targets.

Keyphrases

polycystic ovary syndrome
copy number
insulin resistance
systematic review
type diabetes
adverse drug
skeletal muscle
early onset
emergency department
drug induced
atomic force microscopy
gene expression
mass spectrometry
transcription factor