Title

MAGEL2-related disorders: A study and case series.

Document Type

Article

Publication Date

12-2019

Identifier

DOI: 10.1111/cge.13620; PMCID: PMC6864226

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.

Journal Title

Clinical genetics

Volume

96

Issue

6

First Page

493

Last Page

505

MeSH Keywords

Abnormalities, Multiple; Adult; Child, Preschool; Cluster Analysis; DNA Mutational Analysis; Female; Humans; Infant; Infant, Newborn; Male; Mutation; Proteins; Young Adult

Keywords

Chitayat-Hall syndrome; MAGEL2; MAGEL2-related disorder; Prader-Willi syndrome locus; Schaaf-Yang syndrome

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