Document Detail

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.
MedLine Citation:
PMID:  12920066     Owner:  NLM     Status:  MEDLINE    
METHODS: The 22q13 deletion syndrome (MIM 606232) is characterised by moderate to profound mental retardation, delay/absence of expressive speech, hypotonia, normal to accelerated growth, and mild dysmorphic features. We have determined the deletion size and parent of origin in 56 patients with this syndrome. RESULTS: Similar to other terminal deletion syndromes, there was an overabundance of paternal deletions. The deletions vary widely in size, from 130 kb to over 9 Mb; however all 45 cases that could be specifically tested for the terminal region at the site of SHANK3 were deleted for this gene. The molecular structure of SHANK3 was further characterised. Comparison of clinical features to deletion size showed few correlations. Some measures of developmental assessment did correlate to deletion size; however, all patients showed some degree of mental retardation and severe delay or absence of expressive speech, regardless of deletion size. CONCLUSION: Our analysis therefore supports haploinsufficiency of the gene SHANK3, which codes for a structural protein of the postsynaptic density, as a major causative factor in the neurological symptoms of 22q13 deletion syndrome.
H L Wilson; A C C Wong; S R Shaw; W-Y Tse; G A Stapleton; M C Phelan; S Hu; J Marshall; H E McDermid
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Publication Detail:
Type:  Comparative Study; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  40     ISSN:  1468-6244     ISO Abbreviation:  J. Med. Genet.     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-08-15     Completed Date:  2003-11-03     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  575-84     Citation Subset:  IM    
Department of Biological Sciences, University of Alberta, Edmonton, Alberta T6G 2E9, Canada.
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MeSH Terms
Base Sequence
Carrier Proteins / biosynthesis,  chemistry,  genetics*
Chromosome Deletion*
Chromosome Mapping / methods
Chromosomes, Human, Pair 22 / genetics*
Cytogenetic Analysis
Developmental Disabilities / genetics
Haplotypes / genetics*
Language Development Disorders / genetics*
Mental Retardation / genetics*
Molecular Sequence Data
Patents as Topic
Reg. No./Substance:
0/Carrier Proteins; 0/SHANK3 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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