Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.

doi:10.1038/s41431-021-00977-9

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Article

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.

European journal of human genetics : EJHG - 1 Feb 2022

Tucker Elena J, Bell Katrina M, Robevska Gorjana, van den Bergen Jocelyn, Ayers Katie L, Listyasari Nurin, Faradz Sultana Mh, Dulon Jérôme, Bakhshalizadeh Shabnam, Sreenivasan Rajini, Nouyou Benedicte, Carre Wilfrid, Akloul Linda, Duros Solène, Domin-Bernhard Mathilde, Belaud-Rotureau Marc-Antoine, Touraine Philippe, Jaillard Sylvie, Sinclair Andrew H

Abstract excerpt

Premature ovarian insufficiency (POI), affecting 1 in 100 women, is characterised by loss of ovarian function associated with elevated gonadotropin, before the age of 40. In addition to infertility, patients face increased risk of comorbidities such as heart disease, osteoporosis, cancer and/or early mortality. We used whole exome sequencing to identify the genetic cause of POI in seven women. Each had biallelic...

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PMID: 34707299
DOI: 10.1038/s41431-021-00977-9
PMCID: PMC8821714

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