Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.
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.
Divison of Genetics, Nemours Children's Clinic, Orlando, Florida.
Patricia G
PG
Wheeler
Dongli
D
Huang
Zunyan
Z
Dai
D000328:Adult; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D055028:Comparative Genomic Hybridization; D005260:Female; D005532:Foot Deformities, Congenital; D056726:Genetic Association Studies; D006228:Hand Deformities, Congenital; D057895:Haploinsufficiency; D006655:Histone Deacetylases / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*
D012097:Repressor Proteins; C400300:HDAC4 protein, human; D006655:Histone Deacetylases
2q37.3; BDMR; HDAC4; brachydactyly