Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25).
PMID 22171663 · Ophthalmic genetics · 2012 · DOI 10.3109/13816810.2011.634879
Authors: Cristina González-González; Maria García-Hoyos; Rosario Hernaez Calzón; Carolina Arroyo Díaz; Cristina González Fanego; Isabel Lorda Sánchez; Fernando Sánchez-Escribano
Abstract
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). Conventional cytogenetic and CGH array were performed. 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. 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.
Blepharophimosis; Blepharoptosis; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 3; Comparative Genomic Hybridization; DNA Mutational Analysis; Female; Forkhead Box Protein L2; Forkhead Transcription Factors; Humans; Karyotype; RNA, Long Noncoding; RNA, Untranslated; Translocation, Genetic
Cite
Cristina González-González; Maria García-Hoyos; Rosario Hernaez Calzón; Carolina Arroyo Díaz; Cristina González Fanego; Isabel Lorda Sánchez; Fernando Sánchez-Escribano. Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25). Ophthalmic genetics (2012). PMID 22171663. DOI 10.3109/13816810.2011.634879.