A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

Gabriele Gillessen-Kaesbach; Stephanie Demuth; Hannelore Thiele; Ursel Theile; Christina Lich; Bernhard Horsthemke

doi:10.1038/sj.ejhg.5200362

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

Gabriele Gillessen-Kaesbach^*, Stephanie Demuth, Hannelore Thiele, Ursel Theile, Christina Lich, Bernhard Horsthemke

^*Corresponding author for this work

Institute of Human Genetics

75 Citations (Scopus)

Abstract

The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation. Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome. DNA methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent. Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance. We conclude that these patients have an imprinting defect and a previously unrecognised form of AS. The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism.

Original language	English
Journal	European Journal of Human Genetics
Volume	7
Issue number	6
Pages (from-to)	638-644
Number of pages	7
ISSN	1018-4813
DOIs	https://doi.org/10.1038/sj.ejhg.5200362
Publication status	Published - 1999

Funding

We thank Dr R Fahsold, Dresden, for molecular studies of patient 3, Dr M Hagen, Dr A Petrick and Dr Hasselmann for referring patients2, 3 and 6; Dr K Buiting, C Färber and Professor E Passarge for helpful discussions, and the Deutsche Forschungsgemeinschaft for financial support.

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Research Area: Medical Genetics

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10.1038/sj.ejhg.5200362

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title = "A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect",

abstract = "The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation. Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome. DNA methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent. Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance. We conclude that these patients have an imprinting defect and a previously unrecognised form of AS. The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism.",

author = "Gabriele Gillessen-Kaesbach and Stephanie Demuth and Hannelore Thiele and Ursel Theile and Christina Lich and Bernhard Horsthemke",

note = "Funding Information: We thank Dr R Fahsold, Dresden, for molecular studies of patient 3, Dr M Hagen, Dr A Petrick and Dr Hasselmann for referring patients2, 3 and 6; Dr K Buiting, C F{\"a}rber and Professor E Passarge for helpful discussions, and the Deutsche Forschungsgemeinschaft for financial support.",

year = "1999",

doi = "10.1038/sj.ejhg.5200362",

language = "English",

volume = "7",

pages = "638--644",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

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}

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. / Gillessen-Kaesbach, Gabriele; Demuth, Stephanie; Thiele, Hannelore et al.
In: European Journal of Human Genetics, Vol. 7, No. 6, 1999, p. 638-644.

Research output: Journal Articles › Journal articles › Research › peer-review

TY - JOUR

T1 - A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

AU - Gillessen-Kaesbach, Gabriele

AU - Demuth, Stephanie

AU - Thiele, Hannelore

AU - Theile, Ursel

AU - Lich, Christina

AU - Horsthemke, Bernhard

N1 - Funding Information: We thank Dr R Fahsold, Dresden, for molecular studies of patient 3, Dr M Hagen, Dr A Petrick and Dr Hasselmann for referring patients2, 3 and 6; Dr K Buiting, C Färber and Professor E Passarge for helpful discussions, and the Deutsche Forschungsgemeinschaft for financial support.

PY - 1999

Y1 - 1999

N2 - The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation. Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome. DNA methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent. Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance. We conclude that these patients have an imprinting defect and a previously unrecognised form of AS. The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism.

AB - The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation. Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome. DNA methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent. Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance. We conclude that these patients have an imprinting defect and a previously unrecognised form of AS. The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism.

UR - https://www.scopus.com/pages/publications/0032831340

U2 - 10.1038/sj.ejhg.5200362

DO - 10.1038/sj.ejhg.5200362

M3 - Journal articles

C2 - 10482951

AN - SCOPUS:0032831340

SN - 1018-4813

VL - 7

SP - 638

EP - 644

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 6

ER -

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

Abstract

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