Abstract
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.
- Authors: Jameson Patak; James Gilfert; Melissa Byler; Vamsee Neerukonda; Isabelle Thiffault; Laura Cross; Shivarajan Manickavasagam Amudhavalli; Marta Pacio-Miguez; Maria Palomares-Bralo; Sixto Garica-Minaur; Fernanado Santos-Simarro; Bonnie Marr; Irene Cherrick; Zöe Powis; Wendy A. Alcaraz; Sha Tang; Jonathon Hess; Julie Jurgens; Elizabeth Engle; Robert Lebel
- Collaborators: Boston Children's Hospital; Broad Institute of MIT and Harvard; Centro de Investigacion Biomedica en Red de Enfermedades Raras; Children's Mercy Hospital Kansas City; CPS3; Crouse Memorial Hospital; Harvard Medical School; Hospital Universitario La Paz; Howard Hughes Medical Institute; SUNY Upstate Medical University, Syracuse, NY
- Journal: Clinical Genetics
- Date: 2019 - Aug