Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome

ALAVANDA C., Arslan Ateş E., Yavaş Abalı Z., GEÇKİNLİ B. B., DEMİRCİOĞLU S., ARMAN A.

Clinical Genetics, cilt.104, sa.1, ss.127-132, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 104 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1111/cge.14320
  • Dergi Adı: Clinical Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.127-132
  • Anahtar Kelimeler: MAGEL2, novel, Prader-Willi-like syndrome, Schaaf-Yang syndrome, SHFYNG, PRADER-WILLI-SYNDROME
  • Marmara Üniversitesi Adresli: Evet

Özet

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.