Microdeletion found by array-CGH in girl with Blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25)

Background: Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a rare autosomal dominant congenital disorder. Mutations in FOXL2, a gene located at 3q23, have been shown to cause the syndrome. We report a girl with BPES with a "de novo" apparently balanced translocation be...

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Bibliographic Details
Published in:Ophthalmic genetics 2012-06, Vol.33 (2), p.107-110
Main Authors: González-González, Cristina, García-Hoyos, Maria, Hernaez Calzón, Rosario, Arroyo Díaz, Carolina, González Fanego, Cristina, Lorda Sánchez, Isabel, Sánchez-Escribano, Fernando
Format: Article
Language:English
Subjects:
Blepharophimosis - genetics
Blepharoptosis - genetics
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 15 - genetics
Chromosomes, Human, Pair 3 - genetics
Comparative Genomic Hybridization
DNA Mutational Analysis
Female
Forkhead Box Protein L2
Forkhead Transcription Factors - genetics
Humans
Karyotype
RNA, Long Noncoding
RNA, Untranslated - genetics
Translocation, Genetic
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Summary:Background: Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a rare autosomal dominant congenital disorder. Mutations in FOXL2, a gene located at 3q23, have been shown to cause the syndrome. We report a girl with BPES with a "de novo" apparently balanced translocation between chromosomes 3 and 15: t(3;15)(q23;q25). Material and methods: Conventional cytogenetic and CGH array were performed. Results: The karyotype showed an apparently balanced translocation. Molecular studies by array-CGH did not show deletions in the FOXL2 gene; however, a novel 63.2 kb deletion involving a non-protein-coding gene (PISRT1) was found. Conclusions: The novel deletion found could be involved in FOXL2 regulation and constitutes the smallest deletion described in a female with BPES. In cases of "de novo" apparently balanced translocation, only a 5-6% risk of phenotype alteration is described. Molecular studies can help to discover these alterations and provide insight for genetic counseling.
ISSN:1381-6810
1744-5094
DOI:10.3109/13816810.2011.634879