| Literature DB >> 31397880 |
Jameson Patak1,2,3, James Gilfert1, Melissa Byler1, Vamsee Neerukonda1, Isabelle Thiffault4,5,6, Laura Cross5,6, Shivarajan Amudhavalli5,6, Marta Pacio-Miguez7, Maria Palomares-Bralo7,8, Sixto Garcia-Minaur7,8, Fernando Santos-Simarro7,8, Zoe Powis9, Wendy Alcaraz9, Sha Tang9, Julie Jurgens10,11,12, Brenda Barry10,11,12, Eleina England13, Elizabeth Engle10,11,12,14,15,16, Jonathon Hess2, Robert R Lebel1.
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.Entities:
Keywords: Chitayat-Hall syndrome; MAGEL2; MAGEL2-related disorder; Prader-Willi syndrome locus; Schaaf-Yang syndrome
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Year: 2019 PMID： 31397880 PMCID： PMC6864226 DOI： 10.1111/cge.13620
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438