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

1. 2. 3. 4. 5. B. Bodega1, C. Porta1, P.G. Crosignani2, E. Ginelli1 and A. Marozzi1,3

+ Author Affiliations 1.
1

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

1. 3To 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@unimi.it

Received April 19, 2004. Revision received May 17, 2004. Accepted May 19, 2004.

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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 blepharophimosisptosisepicanthusinversus syndrome associated with POF (BPES I). Interestingly, in two out of 70 idiopathic POF patients, a 30bp deletion (898927del) and a missense mutation (1009TA) 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.