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Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency by I Bestetti; C Barbieri; A Sironi; V Specchia; S A Yatsenko; M D De Donno; C Caslini; D Gentilini; M Crippa; L Larizza; A Marozzi; A Rajkovic; D Toniolo; M P Bozzetti; P Finelli is a Medicine article available to read on EtoBox.

What is Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency about?

## Abstract ## STUDY QUESTION Can a targeted whole exome sequencing (WES) on a cohort of women showing a primary ovarian insufficiency (POI) phenotype at a young age, combined with a study of copy number variations, identify variants in candidate genes confirming their deleterious effect on ovarian function? ## SUMMARY ANSWER This integrated approach has proved effective in identifying novel candidate genes unveiling mechanisms involved in POI pathogenesis. ## WHAT IS KNOWN ALREADY POI, a condition occurring in 1% of women under 40 years of age, affects women’s fertility leading to a premature loss of ovarian reserve. The genetic causes of POI are highly heterogeneous and several determinants contributing to its prominent oligogenic inheritance pattern still need to be elucidated. ## STUDY DESIGN, SIZE, DURATION WES screening for pathogenic variants of 41 Italian women with non-syndromic primary and early secondary amenorrhoea occurring before age 25 was replicated on another 60 POI patients, including 35 French and 25 American women, to reveal statistically significant shared variants. ## PARTICIPANTS/MATERIALS, SETTING, METHODS The Italian POI patients’ DNA were processed by targ

Who reads Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency?

Author

I Bestetti; C Barbieri; A Sironi; V Specchia; S A Yatsenko; M D De Donno; C Caslini; D Gentilini; M Crippa; L Larizza; A Marozzi; A Rajkovic; D Toniolo; M P Bozzetti; P Finelli

Publisher

Oxford University Press (OUP)

Published

2021

Language

EN

Field

Medicine (Health Sciences)