Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

Maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs) and the molecular deletions between AS and those previously reported for PWS did not appear to differ.

Abstract:

Many Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients have a cytogenetic deletion of 15q11q13. While AS and PWS share a similar cytogenetic anomaly, they have very different clinical phenotypes. DNAs from 4 AS patients were examined using 5 chromosome 15q11q13-specific cloned DNA segments. With the present level of resolution, the molecular deletions between AS and those previously reported for PWS did not appear to differ. However, in contrast to the paternal inheritance of the deleted chromosome 15 observed in the majority of PWS patients, maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs).

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Prader-Willi syndrome

Suzanne B. Cassidy,Stuart Schwartz,Jennifer L. Miller,Daniel J. Driscoll +3 moreUniversity of California, San Francisco,Research Triangle Park,University of Florida

- 26 Sep 2011 -

Genetics in Medicine

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TL;DR: Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype.

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Journal ArticleDOI

GABAA receptors : Immunocytochemical distribution of 13 subunits in the adult rat brain

Susanne Pirker,Christoph Schwarzer,Anna Wieselthaler,Werner Sieghart,Günther Sperk +4 moreUniversity of Innsbruck,University of Vienna

- 30 Nov 2000 -

Neuroscience

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TL;DR: The distribution of GABAA receptor subunits deriving from 13 different genes in the adult rat brain was investigated using immunocytochemistry, and striking examples of complementary distribution of certain subunit-immunoreactivities were observed.

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Journal ArticleDOI

UBE3A/E6-AP mutations cause Angelman syndrome

Tatsuya Kishino,Marc Lalande,Marc Lalande,J. Wagstaff +3 moreHarvard University,Howard Hughes Medical Institute

- 01 Jan 1997 -

Nature Genetics

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TL;DR: It is demonstrated that UBE3A mutations are one cause of AS and indicate a possible abnormality in ubiquitin-mediated protein degradation during brain development in this disease.

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Journal ArticleDOI

Prader-Willi Syndrome: Consensus Diagnostic Criteria

Vanja A. Holm,Suzanne B. Cassidy,Merlin G. Butler,Jeanne M. Hanchett,Louise R. Greenswag,Barbara Y. Whitman,Frank Greenberg +6 moreUniversity of Washington

- 01 Feb 1993 -

Pediatrics

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TL;DR: Diagnostic criteria for Prader-Willi syndrome were developed by consensus of seven clinicians experienced with the syndrome in consultation with national and international experts to ensure uniform diagnosis for future clinical and laboratory research in PWS.

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Journal ArticleDOI

Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome

Robert D. Nicholls,Joan H.M. Knoll,Merlin G. Butler,Susan Karam,Marc Lalande,Marc Lalande +5 moreHoward Hughes Medical Institute,Harvard University,Vanderbilt University,Michigan State University

- 16 Nov 1989 -

Nature

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TL;DR: A gene or genes in region 15q11q13 must be inherited from each parent for normal human development, as found in PWS deletion cases4,5, rather than a mutation in a specific gene(s) in this region may result in expression of the clinical phenotype.

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