ArticleEuropean journal of human genetics : EJHG2011
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Glycogen storage diseases.Nature reviews. Disease primers · 2023Review
- Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.NPJ genomic medicine · 2023Review
- Phenotypic implications of pathogenic variant types in Pompe disease.Journal of human genetics · 2021Article
- A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.European journal of human genetics : EJHG · 2021Article
- GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.Human mutation · 2019Article
- Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.BMC medical genetics · 2019Article
- Molecular genetics of Pompe disease: a comprehensive overview.Annals of translational medicine · 2019Review
- Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.Genes · 2018Review
- Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.Medicine · 2017Review
- Therapeutic Potential of Tricyclo-DNA antisense oligonucleotides.Journal of neuromuscular diseases · 2016Review
- c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.BMJ case reports · 2015Article
- Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools.PloS one · 2014Article
- The missing puzzle piece: splicing mutations.International journal of clinical and experimental pathology · 2013Review
- Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.American journal of medical genetics. Part C, Seminars in medical genetics · 2012Article
- Enzyme replacement therapy for Pompe disease.Current neurology and neuroscience reports · 2012Review
- Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.European journal of human genetics : EJHG · 2011Article
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Authors and funding
7 authors.
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Abstract
Glycogen-storage disease type II is an autosomal recessive-inherited disorder due to the deficiency of acid α-glucosidase. A large number of mutations in the acid α-glucosidase gene have been described to date. Among them, ~15% are variations that may affect mRNA splicing process. In this study, we have for the first time comprehensively reviewed the available information on splicing mutations of the acid α-glucosidase gene and we have evaluated their possible impact on the splicing process using different in silico approaches. Out of the 39 different GAA-sequence variations described, an in silico analysis using seven different programs showed that 97% of them are predicted to have an impact on the splicing process. Moreover, this analysis showed a quite good correlation between the impact of the mutation on the splicing process and the clinical phenotype. In addition, we have performed the functional characterization of three novel sequence variants found in Italian patients and still uncharacterized. Using a minigene system, we have confirmed their pathogenic nature. In conclusion, this study has shown that in silico analysis represents a useful tool to select mutations that affect the splicing process of the acid α-glucosidase gene and provides an updated picture of all this kind of mutations reported till now.
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