| Autor: |
Karakaya, Cengiz, Çil, Aylin Pelin, Bilguvar, Kaya, Çakir, Tunahan, Karalok, Mete Hakan, Karabacak, Recep Onur, Caglayan, Ahmet Okay |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
J Obstet Gynaecol Res |
| Popis: |
AIM: To identify pathogenic rare coding Mendelian/high-effect size variant(s) by whole-exome sequencing in familial PCOS patients to elucidate PCOS related pathways. METHODS: Twenty women and their affected available relatives diagnosed with polycystic ovary syndrome according to Rotterdam Criteria were recruited. Whole-exome sequencing on germ-line DNA from 31 polycystic ovary syndrome probands and their affected relatives were performed. Whole-exome sequencing data was further evaluated by pathway and chemogenomics analyses. In-slico analysis of candidate variants were done by VarCards for functional predictions and VarSite for impact on 3D structures in the candidate proteins. RESULTS: Two heterozygous rare FBN3 missense variants in three patients, and one FN1 missense variant in one patient from three different PCOS families were identified. CONCLUSIONS: We identified three novel FBN3 and FN1 variants for the first time in the literature and linked with polycystic ovary syndrome. Further functional studies may identify causality of these newly discovered PCOS related variants, and their role yet remain to be investigated. Our findings may improve our understanding of the biologic pathways affected and identify new drug targets |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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