致病性MAGEL2变异导致Chitayat-Hall综合征(CHS)的表型,沙夫阳综合征(SYS)和Prader-Willi综合征(PWS)。我们介绍了5例MAGEL2突变的患者,包括首例报道有错义变异的患者,增加了有限的文献。Further,我们对CHS和SYS文献进行了系统回顾,评估CHS之间的重叠,SYS和PWS,并分析它们之间的基因型-表型相关性。我们得出的结论是,CHS和SYS之间没有临床和病因上的差异,并建议将这两种综合征简称为MAGEL2相关疾病。
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.