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Mol. Hum. Reprod. Advance Access originally published online on June 4, 2004
Molecular Human Reproduction 2004 10(8):555-557; doi:10.1093/molehr/gah078
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Molecular Human Reproduction vol. 10 no. 8 © European Society of Human Reproduction and Embryology 2004; all rights reserved

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

B. Bodega1, C. Porta1, P.G. Crosignani2, E. Ginelli1 and A. Marozzi1,3

1Department of Biology and Genetics, Medical Faculty and 2First Department of Obstetrics and Gynaecology, University of Milan, Italy

3 To whom correspondence should be addressed at: Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti 3/5, 20133 Milan, Italy. Email: anna.marozzi{at}unimi.it

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 30 bp 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.

Key words: FOXL2/mutation/ovarian failure/premature ovarian failure/sterility


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