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    The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

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    Authors
    Fountain, Michael D.
    Hay, Beverly N.
    Santen, Gijs W. S.
    Schaaf, Christian P.
    UMass Chan Affiliations
    Department of Pediatrics, Division of Genetics
    Document Type
    Journal Article
    Publication Date
    2016-05-19
    Keywords
    MAGEL2
    neurodevelopment
    Prader-Willi syndrome
    Schaaf-Yang syndrome
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities
    Genetics
    Medical Genetics
    Nervous System Diseases
    Pediatrics
    
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    Link to Full Text
    http://dx.doi.org/10.1038/gim.2016.53
    Abstract
    PURPOSE: Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf-Yang syndrome, a Prader-Willi-like disease that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. The causality of the reported variants in the context of the patients' phenotypes was questioned, as MAGEL2 whole-gene deletions seem to cause little or no clinical phenotype. METHODS: Here we report a total of 18 newly identified individuals with Schaaf-Yang syndrome from 14 families, including 1 family with 3 individuals found to be affected with a truncating variant of MAGEL2, 11 individuals who are clinically affected but were not tested molecularly, and a presymptomatic fetal sibling carrying the pathogenic MAGEL2 variant. RESULTS: All cases harbor truncating mutations of MAGEL2, and nucleotides c.1990-1996 arise as a mutational hotspot, with 10 individuals and 1 fetus harboring a c.1996dupC (p.Q666fs) mutation and 2 fetuses harboring a c.1996delC (p.Q666fs) mutation. The phenotypic spectrum of Schaaf-Yang syndrome ranges from fetal akinesia to neurobehavioral disease and contractures of the small finger joints. CONCLUSION: This study provides strong evidence for the pathogenicity of truncating mutations of the paternal allele of MAGEL2, refines the associated clinical phenotypes, and highlights implications for genetic counseling for affected families.
    Source
    Genet Med. 2016 May 19. doi: 10.1038/gim.2016.53. Link to article on publisher's site
    DOI
    10.1038/gim.2016.53
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/43775
    PubMed ID
    27195816
    Notes

    Full author list omitted for brevity. For the full list of authors, see article.

    Related Resources
    Link to Article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1038/gim.2016.53
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