A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

作者：Liesbeth Backx, Eve Seuntjens, Koenraad Devriendt, Joris Robert Vermeesch, Hilde Van Esch · 发表于：Cytogenetic and Genome Research · 年份：2010 · DOI：10.1159/000321577 · 被引用次数：60 · 研究领域：Chromatin Remodeling and Cancer、Genomic variations and chromosomal abnormalities、Prenatal Screening and Diagnostics

We identified a male patient presenting with intellectual disability and agenesis of the corpus callosum, carrying an apparently balanced, reciprocal, de novo translocation t(6;14)(q25.3;q13.2). Breakpoint mapping, using array painting, identified 2 interesting candidate genes, ARID1B and MRPP3, disrupted in the patient. Unexpectedly, the rearrangement produced 3 in-frame reciprocal fusion transcripts that were further characterized. Formation of fusion transcripts is mainly reported in acquired malignancies and is very rarely observed in patients with intellectual disability (ID) and/or multiple congenital malformations (MCA). Additional experimental results suggest that ARID1B, a gene involved in chromatin remodeling, constitutes a good candidate for the central nervous system phenotype present in the patient.