The adult phenotype of Schaaf-Yang syndrome
Abstract Background 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 childh...
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doaj-712697eba97847ddae14ef131df719862020-11-25T03:40:44ZengBMCOrphanet Journal of Rare Diseases1750-11722020-10-0115111110.1186/s13023-020-01557-8The adult phenotype of Schaaf-Yang syndromeFelix Marbach0Magdeldin Elgizouli1Megan Rech2Jasmin Beygo3Florian Erger4Clara Velmans5Constance T. R. M. Stumpel6Alexander P. A. Stegmann7Stefanie Beck-Wödl8Gabriele Gillessen-Kaesbach9Bernhard Horsthemke10Christian P. Schaaf11Alma Kuechler12Institute of Human Genetics, Heidelberg UniversityInstitute of Human Genetics, University Hospital Essen, University Duisburg-EssenDepartment of Molecular and Human Genetics, Baylor College of MedicineInstitute of Human Genetics, University Hospital Essen, University Duisburg-EssenFaculty of Medicine, University of CologneFaculty of Medicine, University of CologneDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical CenterDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical CenterInstitute of Medical Genetics and Applied Genomics, University of TübingenInstitute of Human Genetics, University of LübeckInstitute of Human Genetics, University Hospital Essen, University Duisburg-EssenInstitute of Human Genetics, Heidelberg UniversityInstitute of Human Genetics, University Hospital Essen, University Duisburg-EssenAbstract Background 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. Results Within our small cohort, we identified a range of common features, such as disturbed sleep, hypoactivity, social withdrawal and anxiety, but also noted considerable differences at the level of personal autonomy and skills. Behavioral problems were frequent, and a majority of individuals displayed weight gain and food-seeking behavior, along with mild intellectual disability or borderline intellectual function. Classical symptoms of SHFYNG in childhood were reported for most individuals. Conclusion Our findings indicate a high variability of the functional abilities and social participation of adults with SHFYNG. A high prevalence of obesity within our cohort was notable, and uncontrollable food intake was a major concern for some caregivers. The phenotypes of PWS and SHFYNG in adulthood might be more difficult to discern than the phenotypes in childhood. Molecular genetic testing for SHFYNG should therefore be considered in adults with the suspected diagnosis of PWS, if testing for PWS has been negative.http://link.springer.com/article/10.1186/s13023-020-01557-8Schaaf-Yang syndromePrader–Willi syndromeMAGEL2Adult phenotype |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
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 Alma Kuechler |
spellingShingle |
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 Alma Kuechler The adult phenotype of Schaaf-Yang syndrome Orphanet Journal of Rare Diseases Schaaf-Yang syndrome Prader–Willi syndrome MAGEL2 Adult phenotype |
author_facet |
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 Alma Kuechler |
author_sort |
Felix Marbach |
title |
The adult phenotype of Schaaf-Yang syndrome |
title_short |
The adult phenotype of Schaaf-Yang syndrome |
title_full |
The adult phenotype of Schaaf-Yang syndrome |
title_fullStr |
The adult phenotype of Schaaf-Yang syndrome |
title_full_unstemmed |
The adult phenotype of Schaaf-Yang syndrome |
title_sort |
adult phenotype of schaaf-yang syndrome |
publisher |
BMC |
series |
Orphanet Journal of Rare Diseases |
issn |
1750-1172 |
publishDate |
2020-10-01 |
description |
Abstract Background 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. Results Within our small cohort, we identified a range of common features, such as disturbed sleep, hypoactivity, social withdrawal and anxiety, but also noted considerable differences at the level of personal autonomy and skills. Behavioral problems were frequent, and a majority of individuals displayed weight gain and food-seeking behavior, along with mild intellectual disability or borderline intellectual function. Classical symptoms of SHFYNG in childhood were reported for most individuals. Conclusion Our findings indicate a high variability of the functional abilities and social participation of adults with SHFYNG. A high prevalence of obesity within our cohort was notable, and uncontrollable food intake was a major concern for some caregivers. The phenotypes of PWS and SHFYNG in adulthood might be more difficult to discern than the phenotypes in childhood. Molecular genetic testing for SHFYNG should therefore be considered in adults with the suspected diagnosis of PWS, if testing for PWS has been negative. |
topic |
Schaaf-Yang syndrome Prader–Willi syndrome MAGEL2 Adult phenotype |
url |
http://link.springer.com/article/10.1186/s13023-020-01557-8 |
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