A Novel Donor Splice Site Mutation in the Glycogen Debranching Enzyme Gene Is Associated with Glycogen Storage Disease Type III

1996 ◽  
Vol 225 (2) ◽  
pp. 695 ◽  
Author(s):  
Minoru Okubo ◽  
Yoshiko Aoyama ◽  
Toshio Murase
Keyword(s):  
Splice Site ◽  
Storage Disease ◽  
Splice Site Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Site Mutation ◽  
Debranching Enzyme ◽  
Enzyme Gene ◽  
Glycogen Debranching Enzyme

scholarly journals A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families

2014 ◽  
Vol 34 (5) ◽  
pp. 390-395 ◽  
Author(s):  
Sulman Basit ◽  
Omhani Malibari ◽  
Alia Mahmood Al Balwi ◽  
Firoz Abdusamad ◽  
Feras Abu Ismail
Keyword(s):  
Glycogen Storage Disease ◽  
Splice Site ◽  
Storage Disease ◽  
Splice Site Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Site Mutation ◽  
Type 3

scholarly journals Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 500
Author(s):  
Sarah C. Grünert ◽  
Luciana Hannibal ◽  
Anke Schumann ◽  
Stefanie Rosenbaum-Fabian ◽  
Stefanie Beck-Wödl ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Splice Site ◽  
Transcriptome Analysis ◽  
Storage Disease ◽  
Splice Site Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Site Mutation ◽  
Exon 2

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.

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