MAGEL2-related disorders: A study and case series

Clin Genet. 2019 Dec;96(6):493-505. doi: 10.1111/cge.13620. Epub 2019 Aug 22.


Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a systematic review of the CHS and SYS literature, assess the overlap between CHS, SYS and PWS, and analyze genotype-phenotype correlations among them. We conclude that there is neither a clinical nor etiological difference between CHS and SYS, and propose that the two syndromes simply be referred to as MAGEL2-related disorders.

Keywords: Chitayat-Hall syndrome; MAGEL2; MAGEL2-related disorder; Prader-Willi syndrome locus; Schaaf-Yang syndrome.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Systematic Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • Cluster Analysis
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics
  • Proteins / genetics*
  • Young Adult


  • MAGEL2 protein, human
  • Proteins