Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

TÜRKYILMAZ A., ALAVANDA C., Ates E. A., GEÇKİNLİ B. B., Polat H., GÖKCÜ M., ...More

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, vol.39, no.3, pp.695-710, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.1007/s10815-022-02408-0
  • Journal Name: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, ATLA Religion Database, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.695-710
  • Keywords: SNP array, FIGNL1, Primary ovarian insufficiency, Whole-exome sequencing, ANTI-MULLERIAN HORMONE, CANDIDATE GENES, TURKISH WOMEN, FAILURE, CHROMOSOME, LEUKODYSTROPHY, ABNORMALITIES, GENERATION, PROTEIN, IDENTIFICATION
  • Karadeniz Technical University Affiliated: Yes

Abstract

Purpose Premature ovarian insufficiency (POI) is a heterogeneous disorder characterized by the cessation of menstrual cycles before the age of 40 years due to the depletion or dysfunction of the ovarian follicles. POI is a highly heterogeneous disease in terms of etiology. The aim of this study is to reveal the genetic etiology in POI patients.