Abstract
We examined mutations in the forkhead transcription factor gene, FOXL2, in three members of a Japanese family with autosomal dominant blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and in 100 healthy controls. The FOXL2 was analyzed by direct genomic sequencing. A novel 17-bp deletion at nucleotides 1092–1108 in FOXL2 was found in the three affected patients. No mutation was found in any of the 100 healthy controls. The 17-bp deletion in FOXL2 may be involved in the pathogenesis of BPES in Japanese patients.
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Received: August 17, 2001 / Accepted: October 4, 2001
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Yamada, T., Hayasaka, S., Matsumoto, M. et al. Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. J Hum Genet 46, 733–736 (2001). https://doi.org/10.1007/s100380170009
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DOI: https://doi.org/10.1007/s100380170009