title: 6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment.
abstract: The chromosome 6p21.3 microdeletion phenotype was recently identified through array comparative genomic hybridization. The main features are developmental delay with severe speech impairment, seizures, and behavioral abnormalities. Three patients have been reported with deletion sizes ranging from 100 to 800 kb. We report on a 9-year-old boy with an apparently de novo, 50 kb deletion, and global developmental delay, severe speech impairment, and generalized epilepsy well-controlled by medication. There were four genes identified in this deletion, of which SYNGAP1 is considered to be responsible for speech impairment and epilepsy. We compared the clinical features of this patient with previously reported patients with 6p21.3 and patients with SYNGAP1 mutations. © 2013 Wiley Periodicals, Inc.
authors.affiliation: Institute of Medical Genetics, UMC, Ljubljana, Slovenia. karinwritzl@gmail.com
authors.forename: Karin
authors.initials: K
authors.lastname: Writzl
authors.forename: Alida C
authors.initials: AC
authors.lastname: Knegt
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D002658:Developmental Disabilities / Q000235:genetics; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013064:Speech Disorders / Q000235:genetics*; D020703:ras GTPase-Activating Proteins / Q000235:genetics*
chemical_list: C484739:SYNGAP1 protein, human; D020703:ras GTPase-Activating Proteins