|
|||||
|
|
MAGEL2-related disorders: A study and case series |
|
| Authors: | Jameson Patak James Gilfert Melissa Byler Vamsee Neerukonda Isabelle Thiffault Laura Cross Shivarajan Amudhavalli Marta Pacio-Miguez Maria Palomares-Bralo Sixto Garcia-Minaur Fernando Santos-Simarro Zoe Powis Wendy Alcaraz Sha Tang Julie Jurgens Brenda Barry Eleina England Elizabeth Engle Jonathon Hess Robert R. Lebel |
| Affiliation: | 1. Division of Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York;2. Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, Missouri;3. Department of Pathology & Genetics, Children's Mercy Hospitals, Kansas City, Missouri Kansas City School of Medicine, University of Missouri, Kansas City, Missouri;4. Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain;5. Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos II (ISCIII), Madrid, Spain;6. Ambry Genetics Corporation, Aliso Viejo, California;7. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts Howard Hughes Medical Institute, Chevy Chase, Maryland;8. Center for Mendelian Genomics and Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts;9. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts Howard Hughes Medical Institute, Chevy Chase, Maryland Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts Department of Neurology, Harvard Medical School, Boston, Massachusetts Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts;10. Department of Neuroscience and Physiology, Upstate Medical University, Syracuse, New York |
| 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. |
| Keywords: | Chitayat-Hall syndrome MAGEL2 MAGEL2-related disorder Prader-Willi syndrome locus Schaaf-Yang syndrome |