Abstract：
Schaaf-Yang syndrome (SHFYNG) is a rare pleiotropic disorder, characterized by hypotonia, joint contractures, autism spectrum disorders (ASD), and developmental delay/intellectual disability. Although it shares some common features with Prader-Willi Syndrome, joint contractures, and ASD were more commonly detected in in this syndrome. Recently, it was shown that truncating variants in the paternal allele of the MAGEL2 gene cause SHFYNG. Here, we present two patients diagnosed with SHFYNG syndrome having two different novel truncating variants in the MAGEL2 gene, one paternally inherited and one de novo. One patient had obesity, brachydactyly and dysmorphic features, and the other patient presented with contractures, severe hypotonia and early death. This is the first report of Turkish SHFYNG syndrome cases presented to emphasize the phenotypic diversity of the syndrome.
摘要：
沙夫阳综合征（SHFYNG）是一种罕见的多效性疾病，以张力减退为特征，关节挛缩,自闭症谱系障碍（ASD）和发育迟缓/智力障碍。尽管它与Prader-Willi综合征（PWS）具有一些共同特征，关节挛缩和ASD在该综合征中更常见。最近,研究表明，MAGEL2基因的父系等位基因中的截短变体导致SHFYNG。这里,我们介绍了两名诊断为SHFYNG综合征的患者，他们在MAGEL2基因中具有两种不同的新型截短变异，一个父系继承，一个从头继承。一个病人肥胖,短指和畸形特征，另一个病人出现挛缩，严重的低张力和早期死亡。这是土耳其SHFYNG综合征病例的第一份报告，旨在强调该综合征的表型多样性。本文受版权保护。保留所有权利。
