Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals

Am J Med Genet A. 2014 Jul;164A(7):1826-9. doi: 10.1002/ajmg.a.36542. Epub 2014 Apr 8.

Abstract

Haploinsufficiency of HDAC4 gene has been reported to result in brachydactyly-"mental retardation" syndrome (BDMR), a condition with significant intellectual impairment, brachydactyly type E, and typical facial features. Presented here are three individuals with haploinsufficiency of HDAC4 who have brachydactyly type E, non-dysmorphic facial features, and normal intelligence. This is in contradistinction to previous reports that haploinsufficiency of HDAC4 is sufficient to cause BDMR.

Keywords: 2q37.3; BDMR; HDAC4; brachydactyly.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, Pair 2
  • Comparative Genomic Hybridization
  • Female
  • Foot Deformities, Congenital
  • Genetic Association Studies*
  • Hand Deformities, Congenital
  • Haploinsufficiency*
  • Histone Deacetylases / genetics*
  • Humans
  • Infant
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Male
  • Phenotype
  • Repressor Proteins / genetics*

Substances

  • Repressor Proteins
  • HDAC4 protein, human
  • Histone Deacetylases