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  Evidence against a major role of PEG1/MEST in Silver-Russell syndrome

Riesewijk, A. M., Blagitko, N., Schinzel, A. A., Hu, L., Schulz, U., Hamel, B. C., et al. (1998). Evidence against a major role of PEG1/MEST in Silver-Russell syndrome. Eur J Hum Genet, 6(2), 114-20. doi:10.1038/sj.ejhg.5200164.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-E01D-1 Version Permalink: http://hdl.handle.net/21.11116/0000-0002-E01E-0
Genre: Journal Article

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 Creators:
Riesewijk, A. M.1, Author
Blagitko, N.1, Author
Schinzel, A. A.1, Author
Hu, L.1, Author
Schulz, U.1, Author
Hamel, B. C.1, Author
Ropers, H. H.1, Author
Kalscheuer, V. M.1, Author
Affiliations:
1Max Planck Society, ou_persistent13              

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Free keywords: Abnormalities, Multiple/*genetics Chromosomes, Human, Pair 7 DNA Methylation Exons Genomic Imprinting Growth Disorders/*genetics Humans Introns Polymorphism, Single-Stranded Conformational Proteins/*genetics Syndrome
 Abstract: Silver-Russell syndrome (SRS) is a heterogeneous disorder characterised by interauterine and postnatal growth retardation, with or without additional dysmorphic features. Most cases are sporadic but a few familial cases have been described. A subset of patients exhibit maternal uniparental disomy for chromosome 7 (mUPD7) strongly suggesting that genomic imprinting plays a role in the aetiology of the disease. We and others have recently characterised the human PEG1/MEST gene, the first imprinted gene known to be located on chromosome 7. Although the function of PEG1/MEST is unknown, the paternal-specific expression of this gene and its location at 7q32, render it a promising candidate for SRS. As a prerequisite for mutation screening in 49 patients with SRS and 9 with primordial growth retardation (PGR), we determined the complete genomic structure of the PEG1/MEST gene which consists of 12 exons. Apart from one silent mutation and two novel polymorphisms, nucleotide changes were not detected in any of these patients. Moreover, methylation patterns of the 5' region of PEG1/MEST were found to be normal in 35 SRS and 9 PGR patients and different from the pattern seen in patients with mUPD7. These findings strongly argue against a role of PEG1/MEST in the majority of Silver-Russell syndrome cases.

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 Dates: 1998
 Publication Status: Published in print
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 Identifiers: Other: 9781054
DOI: 10.1038/sj.ejhg.5200164
ISSN: 1018-4813 (Print) 1018-4813 (Linking)
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Title: Eur J Hum Genet
  Alternative Title : European journal of human genetics : EJHG
Source Genre: Journal
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Pages: - Volume / Issue: 6 (2) Sequence Number: - Start / End Page: 114 - 20 Identifier: -