Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf‐Yang syndrome
| Autor: | Ceren Alavanda, Esra Arslan Ateş, Zehra Yavaş Abalı, Bilgen Bilge Geçkinli, Serap Turan, Ahmet Arman |
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| Přispěvatelé: | ALAVANDA C., Arslan Ateş E., Yavaş Abalı Z., GEÇKİNLİ B. B., DEMİRCİOĞLU S., ARMAN A. |
| Rok vydání: | 2023 |
| Předmět: |
GENETİK VE KALITIM
Life Sciences (LIFE) Molecular Biology and Genetics Sağlık Bilimleri MAGEL2 Tıbbi Genetik Yaşam Bilimleri Health Sciences Genetics Genetik GENETICS & HEREDITY Moleküler Biyoloji ve Genetik Genetics (clinical) Internal Medicine Sciences novel Temel Bilimler Life Sciences Dahili Tıp Bilimleri Tıp MOLECULAR BIOLOGY & GENETICS Schaaf-Yang syndrome Yaşam Bilimleri (LIFE) Genetik (klinik) Medicine Prader-Willi-like syndrome SHFYNG Natural Sciences Medical Genetics |
| Zdroj: | Clinical Genetics. |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/cge.14320 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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