Microdeletion found by array-CGH in girl with Blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25)
| Autor: | C. González-González, Carolina Arroyo Díaz, Fernando Sánchez-Escribano, Maria Garcia-Hoyos, Isabel Lorda Sánchez, Cristina González Fanego, Rosario Hernaez Calzón |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Forkhead Box Protein L2
RNA Untranslated Genetic counseling DNA Mutational Analysis Karyotype Chromosomal translocation Blepharophimosis Biology Translocation Genetic FOXL2 Gene medicine Blepharoptosis Humans Genetics (clinical) Genetics Chromosomes Human Pair 15 Comparative Genomic Hybridization Forkhead Transcription Factors medicine.disease Ophthalmology Forkhead box L2 Child Preschool Pediatrics Perinatology and Child Health Female RNA Long Noncoding Chromosomes Human Pair 3 Chromosome Deletion Congenital disorder Comparative genomic hybridization |
| Zdroj: | Ophthalmic Genetics. 33:107-110 |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.3109/13816810.2011.634879 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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