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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female
European Journal of Medical Genetics, Volume 55, No. 11, Year 2012
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Description
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 3.13 Mb deletion at 3q23, 1.2 Mb 5' 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 3.13 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. © 2012 Elsevier Masson SAS.
Authors & Co-Authors
Alao, Maroufou Jules
Benin
Hôpital de la Mère et de L'enfant Lagune
Lalèyè, Anatole
Benin, Cotonou
University of Abomey-calavi
Lalya, Francis
Benin, Cotonou
Centre National Hospitalier et Universitaire
Hans, Christine
Belgium, Brussels
Hôpital Erasme
Abramovicz, M.
Belgium, Brussels
Hôpital Erasme
Morice-Picard, Fanny
France, Bordeaux
Groupe Hospitalier Pellegrin
Arveiler, Benoït
France, Bordeaux
Groupe Hospitalier Pellegrin
Lacombe, Didier
France, Bordeaux
Groupe Hospitalier Pellegrin
Rooryck, Caroline
France, Bordeaux
Groupe Hospitalier Pellegrin
Statistics
Citations: 9
Authors: 9
Affiliations: 5
Identifiers
Doi:
10.1016/j.ejmg.2012.07.005
ISSN:
17697212
e-ISSN:
18780849
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Sexual And Reproductive Health
Participants Gender
Female