Glycogen storage disease IIIa: A private homozygous splice site mutation in AGL gene

Gene Reports ◽  
2017 ◽  
Vol 9 ◽  
pp. 61-64
Author(s):  
Amir Anushiravani ◽  
Mohammad Ali Faghihi ◽  
Hassan Dastsooz ◽  
Kamran B. Lankarani
Keyword(s):  
Glycogen Storage Disease ◽  
Splice Site ◽  
Storage Disease ◽  
Splice Site Mutation ◽  
Glycogen Storage ◽  
Site Mutation

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.

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

1999 ◽  
Vol 22 (6) ◽  
pp. 762-763 ◽  
Author(s):  
G. M. Hadjigeorgiou ◽  
G. P. Comi ◽  
A. Bordoni ◽  
J. Shen ◽  
Y.-T. Chen ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Splice Site ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Donor Splice Site ◽  
Donor Splice ◽  
Type Iiia

scholarly journals Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zahra Beyzaei ◽  
Fatih Ezgu ◽  
Bita Geramizadeh ◽  
Alireza Alborzi ◽  
Alireza Shojazadeh
Keyword(s):  
Case Report ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Laboratory Data ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Novel Mutations ◽  
Site Mutation ◽  
Novel Variants

Abstract Background Glycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be difficult because of overlapping manifestations. Mutation analysis of the genes related to each type of GSD is supposed to be problem-solving, however, the presence of novel mutations can be confusing. In this case report, we will describe our experience with a young girl with the diagnosis of GSD and two novel mutations related to GSD type IXb. Case presentation A 3-year- old girl presented with short stature, hepatomegaly, and liver cirrhosis. No specific diagnosis was made based on laboratory data, so liver biopsy and targeted-gene sequencing (TGS) were performed to find out the specific molecular basis of her disease. It was confirmed that the patient carries two novel variants in the PHKB gene. The variant in the PHKB gene was classified as pathogenic. Conclusions This is the first reported case of a dual molecular mutation of glycogen storage disease type IXb in the same patient. Two novel variants in PHKB were identified and one of them was a pathogenic split-site mutation. In conclusion, for the first time, identification of the novel variants in this patient expands the molecular and the phenotype basis of dual variants in GSD-IXb.

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