Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era

Autor(es)

Franca, Monica Malheiros ^{[1, 2]} ; Mendonca, Berenice Bilharinho ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Lab Hormonios & Genet Mol LIM42, Unidade Endocrinol Desenvolvimento, Hosp Clin, Fac Med, BR-05403900 Sao Paulo, SP - Brazil

^[2] Univ Chicago, Dept Med, Sect Endocrinol, 5841 S Maryland Av, Chicago, IL 60637 - USA

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF THE ENDOCRINE SOCIETY; v. 4, n. 2 FEB 2020.
• Citações Web of Science: 0

Resumo

Primary ovarian insufficiency (POI) is characterized by amenorrhea, increased follicle-stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age of 40 years. Elucidating the cause of POI is a key point for diagnosing and treating affected women. Here, we review the genetic etiology of POI, highlighting new genes identified in the last few years using next-generation sequencing (NGS) approaches. We searched the MEDLINE/PubMed, Cochrane, and Web of Science databases for articles published in or translated to English. Several genes were found to be associated with POI genetic etiology in humans and animal models (SPIDR, BMPR2, MSH4, MSH5, GJA4, FANCM, POLR2C, MRPS22, KHDRBS1, BNC1, WDR62, ATG7/ATG9, BRCA2, NOTCH2, POLR3H, and TP63). The heterogeneity of POI etiology has been revealed to be remarkable in the NGS era, and discoveries have indicated that meiosis and DNA repair play key roles in POI development. (C) Endocrine Society 2019. (AU)

• Processo FAPESP: 13/02162-8 - Patogênese molecular e caracterização de doenças monogênicas do desenvolvimento: um caminho para a medicina translacional
• Beneficiário: Berenice Bilharinho de Mendonça
• Modalidade de apoio: Auxílio à Pesquisa - Temático