Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5904983 | European Journal of Medical Genetics | 2012 | 5 Pages |
Abstract
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder whose main features are the abnormal shape, position and alignment of the eyelids. Type I refers to BPES with female infertility from premature ovarian failure while type II is limited to the ocular features. A causative gene, FOXL2, has been localized to 3q23. We report a black female who carried a de novo chromosomal translocation and 3.13Â Mb deletion at 3q23, 1.2Â Mb 5â² to FOXL2. This suggests the presence of distant cis regulatory elements at the extended FOXL2 locus. In spite of 21 protein coding genes in the 3.13Â Mb deleted segment, the patient had no other malformation and a strictly normal psychomotor development at age 2.5 years. Our observation confirms panethnicity of BPES and adds to the knowledge of the complex cis regulation of human FOXL2 gene expression.
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Authors
M.J. Alao, A. Lalèyè, F. Lalya, Ch. Hans, M. Abramovicz, F. Morice-Picard, B. Arveiler, D. Lacombe, C. Rooryck,