| Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. | |
| | |
MedLine Citation:
|
PMID: 19755383 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Genomic imprinting plays an important role in mammalian development. Loss of imprinting (LOI) through loss (LOM) or gain (GOM) of methylation is involved in many human disorders and cancers. The imprinted 11p15 region is crucial for the control of foetal growth and LOI at this locus is implicated in two clinically opposite disorders: Beckwith Wiedemann syndrome (BWS) with foetal overgrowth associated with an enhanced tumour risk and Russell-Silver syndrome (RSS) with intrauterine and postnatal growth restriction. So far, only a few studies have assessed multilocus LOM in human imprinting diseases. To investigate multilocus LOI syndrome, we studied the methylation status of five maternally and two paternally methylated loci in a large series (n = 167) of patients with 11p15-related foetal growth disorders. We found that 9.5% of RSS and 24% of BWS patients showed multilocus LOM at regions other than ICR1 and ICR2 11p15, respectively. Moreover, over two third of multilocus LOM RSS patients also had LOM at a second paternally methylated locus, DLK1/GTL2 IG-DMR. No additional clinical features due to LOM of other loci were found suggesting an (epi)dominant effect of the 11p15 LOM on the clinical phenotype for this series of patients. Surprisingly, four patients displayed LOM at both ICR1 and ICR2 11p15. Three of them had a RSS and one a BWS phenotype. Our results show for the first time that multilocus LOM can also concern RSS patients. Moreover, LOM can involve both paternally and maternally methylated loci in the same patient. |
| | |
Authors:
|
Salah Azzi; Sylvie Rossignol; Virginie Steunou; Theo Sas; Nathalie Thibaud; Fabienne Danton; Maryline Le Jule; Claudine Heinrichs; Sylvie Cabrol; Christine Gicquel; Yves Le Bouc; Irene Netchine |
Related Documents
:
|
19583613 - Repair of a recurrent pseudoaneurysm of the ascending aorta in an atomic bomb survivor ... 19424053 - Severe aseptic leucoencephalopathy as immune reconstitution inflammatory syndrome in ca... 10678653 - New syndrome?: three sibs diagnosed prenatally with situs inversus totalis, renal and p... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-09-14 |
Journal Detail:
|
Title: Human molecular genetics Volume: 18 ISSN: 1460-2083 ISO Abbreviation: Hum. Mol. Genet. Publication Date: 2009 Dec |
Date Detail:
|
Created Date: 2009-11-20 Completed Date: 2010-02-12 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9208958 Medline TA: Hum Mol Genet Country: England |
Other Details:
|
Languages: eng Pagination: 4724-33 Citation Subset: IM |
Affiliation:
|
Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, H?pital Armand Trousseau, INSERM UMR-S938 Team 4, Universit? Pierre et Marie Curie-Paris 6, Paris, France. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Beckwith-Wiedemann Syndrome
/
genetics* Chromosomes, Human, Pair 11 / genetics* Cohort Studies DNA Methylation Female Fetal Growth Retardation / genetics* Genomic Imprinting* Humans Intercellular Signaling Peptides and Proteins / genetics Male Membrane Proteins / genetics Proteins / genetics Sequence Analysis, DNA Silver-Russell Syndrome / genetics* |
| Chemical | |
Reg. No./Substance:
|
0/DLK1 protein, human; 0/Intercellular Signaling Peptides and Proteins; 0/MEG3 protein, human; 0/Membrane Proteins; 0/Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: EKV mutant Connexin 31 associated cell death is mediated by ER stress.
Next Document: Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1...