title: Severe intellectual disability and autistic features associated with microduplication 2q23.1.
abstract: We report on two patients with developmental delay, hypotonia, and autistic features associated with duplications of chromosome region 2q23.1-2q23.2 detected by chromosome microarray analysis. The duplications include one OMIM Morbid Map gene, MBD5, as well as seven known RefSeq genes (ACVR2A, ORC4L, EPC2, KIF5C, MIR1978, LYPD6B, and LYPD6). MBD5 lies in the minimum area of overlap of the 2q23.1 microdeletion syndrome. This report provides the first detailed clinical examination of two individuals with a duplication of this region and suggests that brain development and cognitive function may be affected by an increased dosage of the genes involved.
authors.affiliation: Department of Pediatrics, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Brian H Y
authors.initials: BH
authors.lastname: Chung
authors.forename: Sureni
authors.initials: S
authors.lastname: Mullegama
authors.forename: Christian R
authors.initials: CR
authors.lastname: Marshall
authors.forename: Anath C
authors.initials: AC
authors.lastname: Lionel
authors.forename: Rosanna
authors.initials: R
authors.lastname: Weksberg
authors.forename: Lucie
authors.initials: L
authors.lastname: Dupuis
authors.forename: Lauren
authors.initials: L
authors.lastname: Brick
authors.forename: Chumei
authors.initials: C
authors.lastname: Li
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Swaroop
authors.initials: S
authors.lastname: Aradhya
authors.forename: D James
authors.initials: DJ
authors.lastname: Stavropoulos
authors.forename: Sarah H
authors.initials: SH
authors.lastname: Elsea
authors.forename: Roberto
authors.initials: R
authors.lastname: Mendoza-Londono
mesh_terms: D000293:Adolescent; D002478:Cells, Cultured; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004268:DNA-Binding Proteins / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis
chemical_list: D004268:DNA-Binding Proteins; C550332:MBD5 protein, human
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