MAGEL2-related disorders: A study and case series.
DOI: 10.1111/cge.13620; PMCID: PMC6864226
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.
Abnormalities, Multiple; Adult; Child, Preschool; Cluster Analysis; DNA Mutational Analysis; Female; Humans; Infant; Infant, Newborn; Male; Mutation; Proteins; Young Adult
Chitayat-Hall syndrome; MAGEL2; MAGEL2-related disorder; Prader-Willi syndrome locus; Schaaf-Yang syndrome
Patak, J., Gilfert, J., Byler, M., Neerukonda, V., Thiffault, I., Cross, L. A., Amudhavalli, S., Pacio-Miguez, M., Palomares-Bralo, M., Garcia-Minaur, S., Santos-Simarro, F., Powis, Z., Alcaraz, W., Tang, S., Jurgens, J., Barry, B., England, E., Engle, E., Hess, J., Lebel, R. R. MAGEL2-related disorders: A study and case series. Clinical genetics 96, 493-505 (2019).