Document Detail


Severe intellectual disability and autistic features associated with microduplication 2q23.1.
MedLine Citation:
PMID:  22085900     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Brian H Y Chung; Sureni Mullegama; Christian R Marshall; Anath C Lionel; Rosanna Weksberg; Lucie Dupuis; Lauren Brick; Chumei Li; Stephen W Scherer; Swaroop Aradhya; D James Stavropoulos; Sarah H Elsea; Roberto Mendoza-Londono
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-11-16
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  20     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-03-15     Completed Date:  2012-08-03     Revised Date:  2013-06-27    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  398-403     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Cells, Cultured
Chromosomes, Human, Pair 2 / genetics*
Comparative Genomic Hybridization
DNA-Binding Proteins / genetics
Developmental Disabilities / genetics*
Female
Gene Duplication*
Humans
Intellectual Disability / genetics*
Male
Oligonucleotide Array Sequence Analysis
Grant Support
ID/Acronym/Agency:
//Canadian Institutes of Health Research
Chemical
Reg. No./Substance:
0/DNA-Binding Proteins; 0/MBD5 protein, human
Comments/Corrections

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