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

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AuteurALAO MAROUFOU, MODJERE OLA MAROUFOU JULES
AuteurLALEYE, OLABISSI ANATOLE A
AuteurLALYA, HONORAT FRANCIS
AuteurHANS, CHRISTINE
AuteurABRAMOVICZ, MARC
AuteurMORICE PICARD, FANNY
AuteurARVEILER, BENOIT
AuteurLACOMBE, DIDIER
AuteurROORYCK, CAROLLINE
Date d'ajout2026-06-02T16:06:57Z
Date de disponibilite2026-06-02T16:06:57Z
Date de publication2012
ResumeBlepharophimosiseptosiseepicanthus 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 50 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
DOI10.1016/j.ejmg.2012.07.005
Autre identifiantBECDB-3670
URIhttps://dspace.uac.bj/handle/123456789/3621
Languefr
Fait partie deEuropean Journal of Medical Genetics
SujetBEPS
SujetTranslocation
SujetDéletion
SujetChromosome 3
SujetFOXL2
TitreBlephaophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female
TypeArticle

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