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Clin Genet. 2019 Aug 9. doi: 10.1111/cge.13620. [Epub ahead of print]

MAGEL2-related disorders: A study and case series.

Author information

1
Division of Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York.
2
Department of Neuroscience and Physiology, Upstate Medical University, Syracuse, New York.
3
MD Program, College of Medicine, SUNY Upstate Medical University, Syracuse, New York.
4
Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, Missouri.
5
Department of Pathology & Genetics, Children's Mercy Hospitals, Kansas City, Missouri.
6
Kansas City School of Medicine, University of Missouri, Kansas City, Missouri.
7
Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain.
8
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos II (ISCIII), Madrid, Spain.
9
Ambry Genetics Corporation, Aliso Viejo, California.
10
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
11
FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.
12
Howard Hughes Medical Institute, Chevy Chase, Maryland.
13
Center for Mendelian Genomics and Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
14
Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.
15
Department of Neurology, Harvard Medical School, Boston, Massachusetts.
16
Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts.

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

PMID:
31397880
DOI:
10.1111/cge.13620

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