A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa
Joint Authors
Zimmermann, Anca
Rossmann, Heidi
Bucerzan, Simona
Grigorescu-Sido, Paula
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-01-17
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Background.
Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by deficiency of the glycogen debranching enzyme.
There is a high phenotypic variability due to different mutations in the AGL gene.
Methods and Results.
We describe a 2.3-year-old boy from a nonconsanguineous Romanian family, who presented with severe hepatomegaly with fibrosis, mild muscle weakness, cardiomyopathy, ketotic fasting hypoglycemia, increased transaminases, creatine phosphokinase, and combined hyperlipoproteinemia.
GSD type IIIa was suspected.
Accordingly, genomic DNA of the index patient was analyzed by next generation sequencing of the AGL gene.
For confirmation of the two mutations found, genetic analysis of the parents and grandparents was also performed.
The patient was compound heterozygous for the novel mutation c.3235C>T, p.Gln107 9 ⁎ (exon 24) and the known mutation c.1589C>G, p.Ser53 0 ⁎ (exon 12).
c.3235 >T, p.Gln107 9 ⁎ was inherited from the father, who inherited it from his mother.
c.1589C>G, p.Ser53 0 ⁎ was inherited from the mother, who inherited it from her father.
Conclusion.
We report the first genetically confirmed case of a Romanian patient with GSDIIIa.
We detected a compound heterozygous genotype with a novel mutation, in the context of a severe hepatopathy and an early onset of cardiomyopathy.
American Psychological Association (APA)
Zimmermann, Anca& Rossmann, Heidi& Bucerzan, Simona& Grigorescu-Sido, Paula. 2016. A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. Case Reports in Genetics،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100761
Modern Language Association (MLA)
Zimmermann, Anca…[et al.]. A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. Case Reports in Genetics No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1100761
American Medical Association (AMA)
Zimmermann, Anca& Rossmann, Heidi& Bucerzan, Simona& Grigorescu-Sido, Paula. A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. Case Reports in Genetics. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100761
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100761