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GENATLAS PHENOTYPE
last update : 20-11-2024
Symbol PWLAD
Location 15q11.2
Name Prader-Willi like with autism spectrum disorder
Other name(s)
  • Schaaf-Yang syndrome
  • Chitayat-Hall syndrome
    • Corresponding gene MAGEL2
    Other symbol(s) SHFYNG, SYS
    Main clinical features
  • autism spectrum disorder (ASD), mental retardation and a varying degree of clinical and behavioral features of Prader-Willi, mild intellectual disability, joint contractures, and profound hypothalamic dysfunction
  • neonatal hypotonia and feeding difficulties requiring tube feeding, followed by hyperphagia and absence of satiety, and intellectual disability
    • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    psychiatry disorder
    osteo-articular
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    Remark(s)
  • functional hemizygosity for MAGEL2, and a truncating mutation on the paternal allele leaves affected individuals without functional expressed MAGEL2 (PMID: 24076603))
  • a perturbed interaction of mutant MAGEL2 with interaction partners such as SMN and FMRP and/or its influence on SNORD116 expression might thus explain some of the observed phenotypes (PMID: 38908375))