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Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome


Wey, Eva; Bartholdi, Deborah; Riegel, Mariluce; Nazlican, Hülya; Horsthemke, Bernhard; Schinzel, Albert; Baumer Wolz, Alessandra (2004). Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. European Journal of Human Genetics, 13(3):273-277.

Abstract

We describe a young woman with Prader-Willi syndrome (PWS) due to a mosaic imprinting defect. Three independent assays revealed a reduced proportion of nonmethylated SNURF-SNRPN alleles in peripheral blood DNA: methylation-specific PCR followed by denaturing high-performance liquid chromatography (MSP/DHPLC), methylation-sensitive restriction enzyme analysis and methylation-specific real-time PCR analysis. Microsatellite analysis and fluorescence in situ hybridisation revealed apparently normal chromosomes 15 of biparental origin. Based on the MSP/DHPLC and real-time PCR results, we estimate that approximately 50% of the patient's blood cells have an imprinting defect and 50% of the cells are normal. Apart from a rather normal facial appearance, the proband has typical features of PWS.

Abstract

We describe a young woman with Prader-Willi syndrome (PWS) due to a mosaic imprinting defect. Three independent assays revealed a reduced proportion of nonmethylated SNURF-SNRPN alleles in peripheral blood DNA: methylation-specific PCR followed by denaturing high-performance liquid chromatography (MSP/DHPLC), methylation-sensitive restriction enzyme analysis and methylation-specific real-time PCR analysis. Microsatellite analysis and fluorescence in situ hybridisation revealed apparently normal chromosomes 15 of biparental origin. Based on the MSP/DHPLC and real-time PCR results, we estimate that approximately 50% of the patient's blood cells have an imprinting defect and 50% of the cells are normal. Apart from a rather normal facial appearance, the proband has typical features of PWS.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:1 December 2004
Deposited On:26 May 2021 14:29
Last Modified:25 Apr 2024 01:37
Publisher:Nature Publishing Group
ISSN:1018-4813
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1038/sj.ejhg.5201337
PubMed ID:15578038