Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

Bärbel Dittrich; Wendy P. Robinson; Hans Knoblauch; Karin Buiting; Kerstin Schmidt; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke

doi:10.1007/BF00220089

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

Bärbel Dittrich, Wendy P. Robinson, Hans Knoblauch, Karin Buiting, Kerstin Schmidt, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke^*

^*Corresponding author for this work

Institute of Human Genetics

156 Citations (Scopus)

Abstract

The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to AS. We have found that an MspI/HpaII restriction site at the D15S63 locus in 15q11-13 is methylated on the maternally derived chromosome, but unmethylated on the paternally derived chromosome. Based on this difference, we have devised a rapid diagnostic test for patients suspected of having PWS and AS.

Original language	English
Journal	Human Genetics
Volume	90
Issue number	3
Pages (from-to)	313-315
Number of pages	3
ISSN	0340-6717
DOIs	https://doi.org/10.1007/BF00220089
Publication status	Published - 11.1992

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Research Area: Medical Genetics

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@article{bdaf661077fe46c383ac538facf0cfff,

title = "Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13",

abstract = "The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to AS. We have found that an MspI/HpaII restriction site at the D15S63 locus in 15q11-13 is methylated on the maternally derived chromosome, but unmethylated on the paternally derived chromosome. Based on this difference, we have devised a rapid diagnostic test for patients suspected of having PWS and AS.",

author = "B{\"a}rbel Dittrich and Robinson, {Wendy P.} and Hans Knoblauch and Karin Buiting and Kerstin Schmidt and Gabriele Gillessen-Kaesbach and Bernhard Horsthemke",

year = "1992",

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doi = "10.1007/BF00220089",

language = "English",

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journal = "Human Genetics",

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T1 - Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

AU - Dittrich, Bärbel

AU - Robinson, Wendy P.

AU - Knoblauch, Hans

AU - Buiting, Karin

AU - Schmidt, Kerstin

AU - Gillessen-Kaesbach, Gabriele

AU - Horsthemke, Bernhard

PY - 1992/11

Y1 - 1992/11

N2 - The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to AS. We have found that an MspI/HpaII restriction site at the D15S63 locus in 15q11-13 is methylated on the maternally derived chromosome, but unmethylated on the paternally derived chromosome. Based on this difference, we have devised a rapid diagnostic test for patients suspected of having PWS and AS.

AB - The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to AS. We have found that an MspI/HpaII restriction site at the D15S63 locus in 15q11-13 is methylated on the maternally derived chromosome, but unmethylated on the paternally derived chromosome. Based on this difference, we have devised a rapid diagnostic test for patients suspected of having PWS and AS.

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DO - 10.1007/BF00220089

M3 - Journal articles

C2 - 1487250

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SN - 0340-6717

VL - 90

SP - 313

EP - 315

JO - Human Genetics

JF - Human Genetics

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ER -

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

Abstract

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