%0 Case Reports
%T MAGEL2-related disorders: A study and case series.
%A Patak J
%A Gilfert J
%A Byler M
%A Neerukonda V
%A Thiffault I
%A Cross L
%A Amudhavalli S
%A Pacio-Miguez M
%A Palomares-Bralo M
%A Garcia-Minaur S
%A Santos-Simarro F
%A Powis Z
%A Alcaraz W
%A Tang S
%A Jurgens J
%A Barry B
%A England E
%A Engle E
%A Hess J
%A Lebel RR
%J Clin Genet
%V 96
%N 6
%D 12 2019
%M 31397880
%F 4.296
%R 10.1111/cge.13620
%X 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.