title: Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.
abstract: Patients with 2q37 deletions manifest brachydactyly mental retardation syndrome (BDMR). Recent advances in human molecular research have revealed that alterations in the histone deacetylase 4 gene (HDAC4) are responsible for the clinical manifestations of BDMR. Here, we report two male patients with 2q37.3 deletions. One of the patients showed a typical BDMR phenotype, and HDAC4 was included in the deletion region. HDAC4 was preserved in the other patient, and he showed a normal intelligence level with the delayed learning of complex motor skills. Detailed neuropsychological examinations revealed similar neuropsychological profiles in these two patients (visuo-spatial dyspraxia) that suggested developmental dyspraxia. These observations suggested that some other candidate genes for neuronal development exist in the telomeric region of HDAC4.
authors.affiliation: Department of Rehabilitation for Brain Functions, Developmental Disability Study Section, Research Institute of National Rehabilitation Center for Persons with Disabilities, Tokorozawa, Japan; Department of Behavioral Neurology and Cognitive Neuroscience, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors.forename: Kaeko
authors.initials: K
authors.lastname: Ogura
authors.forename: Kenzo
authors.initials: K
authors.lastname: Takeshita
authors.forename: Chikako
authors.initials: C
authors.lastname: Arakawa
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D000293:Adolescent; D001072:Apraxias / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006655:Histone Deacetylases / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009483:Neuropsychological Tests; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D012097:Repressor Proteins; C400300:HDAC4 protein, human; D006655:Histone Deacetylases
keywords: 2q37.3 deletion; Albright hereditary osteodystrophy-like syndrome (AHO-like); autism spectrum disorder; brachydactyly mental retardation syndrome (BDMR); developmental dyspraxia; histone deacetylase 4 gene (HDAC4); intellectual disability