Article
Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.
PloS one - 1 Jan 2020
Ieda Daisuke, Negishi Yutaka, Miyamoto Tomomi, Johmura Yoshikazu, Kumamoto Natsuko, Kato Kohji, Miyoshi Ichiro, Nakanishi Makoto, Ugawa Shinya, Oishi Hisashi, Saitoh Shinji
Abstract excerpt
Schaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternal allele of MAGEL2, located in the Prader-Willi critical region, 15q11-q13. Although the phenotypes of SYS overlap those of Prader-Willi syndrome (PWS), including neonatal hypotonia, feeding problems, and developmental delay/intellectual disability, SYS patients show autism spectrum disorder and joint...
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