Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

2007 ◽  
Vol 30 (6) ◽  
pp. 989-989 ◽  
Author(s):  
E. Barkaoui ◽  
W. Cherif ◽  
N. Tebib ◽  
C. Charfeddine ◽  
F. Ben Rhouma ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Type Ia

PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature

2018 ◽  
Vol 31 (3) ◽  
pp. 331-338 ◽  
Author(s):  
Chunyun Li ◽  
Lihua Huang ◽  
Lang Tian ◽  
Jia Chen ◽  
Shentang Li ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Novel Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Chinese Family ◽  
Phosphorylase Kinase

AbstractBackground:PHKG2gene mutation can lead to liver phosphorylase kinase (PhK) deficiency, which is related to glycogen storage disease type IX (GSD IX). GSD IXc due toPHKG2mutation is the second most common GSD IX.Methods:We identified a novel mutation (c.553C>T, p.Arg185X) inPHKG2in a Chinese family and verified it by next-generation and Sanger sequencing. The mutation spectrum of thePHKG2gene was summarized based on 25 GSD IXc patients withPHKG2mutations.Results:We found that missense mutation (39%) was the most common type of mutation, followed by nonsense mutation (23%). Mutations were more prevalent in Asian (12/25) and European (9/25) populations than in populations from elsewhere. The exons had more sites of mutation than the introns, and exons 3 and 6 were the most frequent sites of mutations.Conclusions:This study expands our knowledge of thePHKG2gene mutation spectrum, providing a molecular basis for GSD IXc.

scholarly journals Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia

2019 ◽  
Vol 13 ◽  
pp. 265-273 ◽  
Author(s):  
Hye-Ri Kang ◽  
Lauren Waskowicz ◽  
Andrea M. Seifts ◽  
Dustin J. Landau ◽  
Sarah P. Young ◽  
...  
Keyword(s):  
Genome Editing ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Aav Vector ◽  
Type Ia

Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

2004 ◽  
Vol 83 (3) ◽  
pp. 276-279 ◽  
Author(s):  
Celia J. Angaroni ◽  
Raquel Dodelson de Kremer ◽  
Carlos E. Argaraña ◽  
Ana E. Paschini-Capra ◽  
Alicia N. Giner-Ayala ◽  
...  
Keyword(s):  
Protein Stability ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia
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