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.
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.
© 2014 Wiley Periodicals, Inc.