| Autor: |
Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Diagnostics, Vol 11, Iss 3, p 500 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2075-4418 |
| DOI: |
10.3390/diagnostics11030500 |
| Popis: |
Introduction: Glycogen storage disease type VI (GSD VI) is a disorder of glycogen metabolism due to mutations in the PYGL gene. Patients with GSD VI usually present with hepatomegaly, recurrent hypoglycemia, and short stature. Results: We report on two non-related Turkish patients with a novel homozygous splice site variant, c.345G>A, which was shown to lead to exon 2 skipping of the PYGL-mRNA by exome and transcriptome analysis. According to an in silico analysis, deletion Arg82_Gln115del is predicted to impair protein stability and possibly AMP binding. Conclusion: GSD VI is a possibly underdiagnosed disorder, and in the era of next generation sequencing, more and more patients with variants of unknown significance in the PYGL-gene will be identified. Techniques, such as transcriptome analysis, are important tools to confirm the pathogenicity and to determine therapeutic measures based on genetic results. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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