Document Detail

Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia.
MedLine Citation:
PMID:  18571544     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To investigate whether epigenotyping of patients with isolated hemihyperplasia (IH) can, analogous to genetic screening of patients with Beckwith-Wiedemann syndrome, be used for the prediction of tumor risk and tumor type of individual patients. STUDY DESIGN: Methylation analysis of H19 and KCNQ1OT1 of 73 patients. Questionnaires were sent to referring clinicians. RESULTS: In 75% of the clinically confirmed patients with IH no epigenetic defect was detected. Paternal uniparental disomy was found in 15%, demethylation of KCNQ1OT1 in only 6%, and hypermethylation of H19 in 3% of isolated hemihyperplasia cases. Ten percent of the patients with IH had development of a childhood tumor associated with paternal uniparental disomy (2/8) or no methylation defect (2/30). No genetic defect was detected in 10 of 14 additional patients with cancer with IH. In these latter patients, a methylation defect of H19 was seen 3 times and a paternal uniparental disomy once. The female-to-male ratio was 6:1. CONCLUSIONS: Aberrant methylation of the 11p15 region is not common in patients with IH and can at present not be used for tumor risk determination.
Jet Bliek; Saskia Maas; Mariel Alders; Johannes H M Merks; Marcel Mannens
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Publication Detail:
Type:  Journal Article     Date:  2008-03-07
Journal Detail:
Title:  The Journal of pediatrics     Volume:  153     ISSN:  1097-6833     ISO Abbreviation:  J. Pediatr.     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-23     Completed Date:  2008-07-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  95-100     Citation Subset:  AIM; IM    
Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
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MeSH Terms
Beckwith-Wiedemann Syndrome / complications*,  genetics*
Child, Preschool
DNA Methylation
Epigenesis, Genetic
Models, Genetic
Neoplasms / complications*,  genetics
Risk Factors
Uniparental Disomy

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