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

Cytogenet Genome Res. 2011;132(3):135-43. doi: 10.1159/000321577. Epub 2010 Oct 30.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Agenesis of Corpus Callosum*
  • Base Sequence
  • Chromosome Breakpoints
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 6 / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics
  • Gene Fusion / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / pathology*
  • Male
  • Molecular Sequence Data
  • Mutation
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription Factors / genetics
  • Transcription, Genetic
  • Translocation, Genetic*


  • ARID1B protein, human
  • DNA-Binding Proteins
  • Transcription Factors