Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

• Published in: American journal of human genetics Vol. 87; no. 2; pp. 219 - 228
• Main Authors: Williams, Stephen R., Aldred, Micheala A., Der Kaloustian, Vazken M., Halal, Fahed, Gowans, Gordon, McLeod, D. Ross, Zondag, Sara, Toriello, Helga V., Magenis, R. Ellen, Elsea, Sarah H.
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 13.08.2010; Cell Press; Elsevier
• Subjects: Adolescent; Adult; Base Sequence; Behavior; Biological and medical sciences; Child; Child, Preschool; Chromosomes; Developmental Disabilities - complications; Developmental Disabilities - enzymology; Developmental Disabilities - genetics; Diseases of the osteoarticular system; DNA Mutational Analysis; Female; Fundamental and applied biological sciences. Psychology; Gene Deletion; General aspects. Genetic counseling; Genes; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Hand Deformities, Congenital - complications; Hand Deformities, Congenital - diagnostic imaging; Hand Deformities, Congenital - enzymology; Hand Deformities, Congenital - genetics; Haploidy; Histone Deacetylases - genetics; Humans; Infant, Newborn; Intellectual Disability - complications; Intellectual Disability - enzymology; Intellectual Disability - genetics; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical genetics; Medical sciences; Mental retardation; Molecular and cellular biology; Molecular Sequence Data; Pregnancy; Proteins; Radiography; Repressor Proteins - genetics; Rodents; Syndrome; Human; Disease of the hand; Malformation; Diseases of the osteoarticular system; Finger; Intellectual deficiency; Genetics; Upper limb; Developmental disorder; Mental retardation; Brachydactyly; Behavioral disorder

Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance, craniofacial and skeletal abnormalities (including...