Article
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2017
Fountain Michael D, Aten Emmelien, Cho Megan T, Juusola Jane, Walkiewicz Magdalena A, Ray Joseph W, Xia Fan, Yang Yaping, Graham Brett H, Bacino Carlos A, Potocki Lorraine, van Haeringen Arie, Ruivenkamp Claudia A L, Mancias Pedro, Northrup Hope, Kukolich Mary K, Weiss Marjan M, van Ravenswaaij-Arts Conny M A, Mathijssen Inge B, Levesque Sebastien, Meeks Naomi, Rosenfeld Jill A, Lemke Danielle, Hamosh Ada, Lewis Suzanne K, Race Simone, Stewart Laura L, Hay Beverly, Lewis Andrea M, Guerreiro Rita L, Bras Jose T, Martins Marcia P, Derksen-Lubsen Gerarda, Peeters Els, Stumpel Connie, Stegmann Sander, Bok Levinus A, Santen Gijs W E, Schaaf Christian P
Abstract excerpt
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...
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