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MAGEL2 ‐related disorders: A study and case series
Author(s) -
Patak Jameson,
Gilfert James,
Byler Melissa,
Neerukonda Vamsee,
Thiffault Isabelle,
Cross Laura,
Amudhavalli Shivarajan,
PacioMiguez Marta,
PalomaresBralo Maria,
GarciaMinaur Sixto,
SantosSimarro Fernando,
Powis Zoe,
Alcaraz Wendy,
Tang Sha,
Jurgens Julie,
Barry Brenda,
England Eleina,
Engle Elizabeth,
Hess Jonathon,
Lebel Robert R.
Publication year - 2019
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13620
Subject(s) - series (stratigraphy) , medicine , biology , paleontology
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.