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Diseases 2016, 4(1), 2; doi:10.3390/diseases4010002

Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene

1
Interdepartmental Program in Translational Biology and Molecular Medicine, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
2
Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX 77030, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Danny Camfferman
Received: 2 December 2015 / Revised: 7 January 2016 / Accepted: 11 January 2016 / Published: 13 January 2016
(This article belongs to the Special Issue Prader-Willi Syndrome)
View Full-Text   |   Download PDF [1089 KB, uploaded 13 January 2016]   |  

Abstract

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by neonatal hypotonia, developmental delay/intellectual disability, and characteristic feeding behaviors with failure to thrive during infancy; followed by hyperphagia and excessive weight gain later in childhood. Individuals with PWS also manifest complex behavioral phenotypes. Approximately 25% meet criteria for autism spectrum disorder (ASD). PWS is caused by the absence of paternally expressed, maternally silenced genes at chromosome 15q11-q13. MAGEL2 is one of five protein-coding genes in the PWS-critical domain. Truncating point mutations of the paternal allele of MAGEL2 cause Schaaf-Yang syndrome, which has significant phenotypic overlap with PWS, but is also clinically distinct; based on the presence of joint contractures, and a particularly high prevalence of autism spectrum disorder (up to 75% of affected individuals). The clinical and molecular overlap between PWS and Schaaf-Yang syndrome, but also their distinguishing features provide insight into the pathogenetic mechanisms underlying both disorders. View Full-Text
Keywords: Prader-Willi syndrome; Schaaf-Yang syndrome; MAGEL2; USP7; neurodevelopmental disorders Prader-Willi syndrome; Schaaf-Yang syndrome; MAGEL2; USP7; neurodevelopmental disorders
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Fountain, M.D.; Schaaf, C.P. Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. Diseases 2016, 4, 2.

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