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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)
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
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MDPI and ACS Style

Fountain, M.D.; Schaaf, C.P. Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. Diseases 2016, 4, 2. https://0-doi-org.brum.beds.ac.uk/10.3390/diseases4010002

AMA Style

Fountain MD, Schaaf CP. Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. Diseases. 2016; 4(1):2. https://0-doi-org.brum.beds.ac.uk/10.3390/diseases4010002

Chicago/Turabian Style

Fountain, Michael D., and Christian P. Schaaf 2016. "Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene" Diseases 4, no. 1: 2. https://0-doi-org.brum.beds.ac.uk/10.3390/diseases4010002

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