ALAVANDA, CERENGEÇKİNLİ, BİLGEN BİLGEDEMİRCİOĞLU, SERAPARMAN, AHMET2023-04-042023-04-042023-01-01ALAVANDA C., Arslan Ateş E., Yavaş Abalı Z., GEÇKİNLİ B. B., DEMİRCİOĞLU S., ARMAN A., "Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome", Clinical Genetics, 20230009-9163https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85150510477&origin=inwardhttps://hdl.handle.net/11424/288197Schaaf-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.enginfo:eu-repo/semantics/openAccessTıpDahili Tıp BilimleriTıbbi GenetikYaşam BilimleriMoleküler Biyoloji ve GenetikSağlık BilimleriTemel BilimlerMedicineInternal Medicine SciencesMedical GeneticsLife SciencesMolecular Biology and GeneticsHealth SciencesNatural SciencesYaşam Bilimleri (LIFE)GENETİK VE KALITIMLife Sciences (LIFE)MOLECULAR BIOLOGY & GENETICSGENETICS & HEREDITYGenetikGenetik (klinik)GeneticsGenetics (clinical)MAGEL2novelPrader-Willi-like syndromeSchaaf-Yang syndromeSHFYNGMAGEL2novelPrader-Willi-like syndromeSchaaf-Yang syndromeSHFYNGarticle10.1111/cge.14320