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The adult phenotype of Schaaf-Yang syndrome

MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in the imprinted region on 15q11.2q13. The phenotype of SHFYNG in childhood partially overla...

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Main Authors: Marbach, Felix (Author) , Elgizouli, Magdeldin (Author) , Rech, Megan E. (Author) , Beygo, Jasmin (Author) , Erger, Florian (Author) , Velmans, Clara Helene (Author) , Stumpel, Constance T. R. M. (Author) , Stegmann, Alexander P. A. (Author) , Beck-Wödl, Stefanie (Author) , Gillessen-Kaesbach, Gabriele (Author) , Horsthemke, Bernhard (Author) , Schaaf, Christian P. (Author) , Küchler, Alma (Author)
Format: Article (Journal)
Language:English
Published: 19 October 2020
In: Orphanet journal of rare diseases
Year: 2020, Volume: 15
ISSN:1750-1172
DOI:10.1186/s13023-020-01557-8
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-020-01557-8
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Author Notes:Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-Wödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf, and Alma Kuechler
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Summary:MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in the imprinted region on 15q11.2q13. The phenotype of SHFYNG in childhood partially overlaps with that of the well-established Prader-Willi syndrome (PWS, OMIM #176270). While larger numbers of younger individuals with SHFYNG have been recently published, the phenotype in adulthood is not well established. We recruited 7 adult individuals (aged 18 to 36) with molecularly confirmed SHFYNG and collected data regarding the clinical profile including eating habits, sleep, behavior, personal autonomy, psychiatric abnormalities and other medical conditions, as well as information about the respective phenotypes in childhood.
Item Description:Gesehen am 30.11.2020
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-020-01557-8

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