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

被引:32
作者
Bodega, B
Porta, C
Crosignani, PG
Ginelli, E
Marozzi, A
机构
[1] Univ Milan, Dept Obstet & Gynaecol 1, I-20122 Milan, Italy
[2] Univ Milan, Dept Biol & Genet, Fac Med, I-20122 Milan, Italy
关键词
FOXL2; mutation; ovarian failure; premature ovarian failure; sterility;
D O I
10.1093/molehr/gah078
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
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.
引用
收藏
页码:555 / 557
页数:3
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