Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure

B. Bodega, C. Porta, P. G. Crosignani, E. Ginelli, Anna Marozzi

Research output: Contribution to journalArticle

Abstract

Premature ovarian failure (POF) is a heterogeneous disorder whose aetiology is still unknown. Recently, the autosomal FOXL2 gene, highly expressed in the adult ovary, has been correlated with the disorder. FOXL2 mutations, causing a truncation of the FOXL2 protein in the forkhead domain or in the poly-Ala tract lead to blepharophimosis-ptosis-epicanthus-inversus syndrome associated with POF (BPES I). Interestingly, in two out of 70 idiopathic POF patients, a 30bp deletion (898-927del) and a missense mutation (1009T → A) were identified. To further evaluate the correlation between POF and FOXL2 mutations, 120 phenotypically normal women affected by POF were analysed by direct sequencing of the FOXL2 coding region. The analysis did not reveal any mutation in the 240 analysed chromosomes, indicating that mutations in the FOXL2 coding region are rarely associated with non-syndromic POF.

Original languageEnglish
Pages (from-to)555-557
Number of pages3
JournalMolecular Human Reproduction
Volume10
Issue number8
DOIs
Publication statusPublished - Aug 2004

Keywords

  • FOXL2
  • Mutation
  • Ovarian failure
  • Premature ovarian failure
  • Sterility

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics
  • Developmental Biology
  • Embryology
  • Cell Biology

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