Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.

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 3.13 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.

• Authors: M J Alao, A Lalèyè, F Lalya, Ch Hans, M Abramovicz, F Morice-Picard, B Arveiler, D Lacombe, C Rooryck
• Journal: European journal of medical genetics (Eur J Med Genet) Vol. 55 Issue 11 Pg. 630-4 (Nov 2012) ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 22906557 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Chemical References

• FOXL2 protein, human
• Forkhead Box Protein L2
• Forkhead Transcription Factors

Topics

• Benin
• Black People (genetics)
• Blepharophimosis (diagnosis, ethnology, genetics)
• Chromosome Deletion
• Chromosomes, Human, Pair 3 (genetics)
• Female
• Forkhead Box Protein L2
• Forkhead Transcription Factors (genetics)
• Humans
• Infant
• Menopause, Premature (ethnology, genetics)
• Skin Abnormalities (diagnosis, ethnology, genetics)
• Translocation, Genetic