MAGEL2-related disorders: A study and case series.

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.