AI Article Synopsis
- Glycogen storage disease type VI (GSD VI) is linked to mutations in the PYGL gene, causing symptoms like enlarged liver, low blood sugar, and short stature.
- A study reports two Turkish patients with a new genetic variant, c.345G>A, resulting in skipping of an important mRNA exon, potentially affecting protein stability and function.
- GSD VI might be commonly overlooked, but advanced genetic sequencing techniques can help identify these cases and assess their implications for treatment.
Article Abstract
Introduction: Glycogen storage disease type VI (GSD VI) is a disorder of glycogen metabolism due to mutations in the 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 -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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7998545 | PMC |
| http://dx.doi.org/10.3390/diagnostics11030500 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!