A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14

Am J Med Genet A. 2013 Apr;161A(4):841-4. doi: 10.1002/ajmg.a.35751. Epub 2013 Feb 26.


Interstitial deletions involving 2q24 have been associated with a wide range of phenotypes including intellectual disability and short stature. To date, the smallest common region among reported cases of deletions in this region is approximately 2.65 Mb and contains 15 genes. In the present case report, we describe an 18-year-old male with mild intellectual disability, short stature, and mosaicism for a 0.422 Mb deletion on 2q24.2 that was diagnosed by comparative genomic hybridization and confirmed with fluorescent in situ hybridization (FISH). This deletion, which is present in approximately 61% of cells, includes three genes: TBR1, TANK, and PSMD14. The findings suggest that the critical region for intellectual disability and short stature in 2q24.2 can be narrowed to a 0.422 Mb segment. TBR1, a transcription factor involved in early cortical development, is a strong candidate for the intellectual disability phenotype seen in our patient and in patients with larger deletions in this region of the genome.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adolescent
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2
  • Comparative Genomic Hybridization
  • Dwarfism / genetics
  • Genetic Association Studies
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Male
  • Mosaicism*
  • Phenotype
  • Proteasome Endopeptidase Complex / genetics*
  • T-Box Domain Proteins / genetics*
  • Trans-Activators / genetics*


  • Adaptor Proteins, Signal Transducing
  • PSMD14 protein, human
  • T-Box Domain Proteins
  • TANK protein, human
  • TBR1 protein, human
  • Trans-Activators
  • Proteasome Endopeptidase Complex

Supplementary concepts

  • Chromosome 2, monosomy 2q24