Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T>G genotype rarely reveals abnormalities

2008 ◽  
Vol 275 (1-2) ◽  
pp. 46-50 ◽  
Author(s):  
N.A.M.E. van der Beek ◽  
O.I.I. Soliman ◽  
C.I. van Capelle ◽  
M.L. Geleijnse ◽  
W.B. Vletter ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Cardiac Evaluation ◽  
The Common ◽  
C 32

scholarly journals Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

2018 ◽  
Vol 123 (2) ◽  
pp. S21
Author(s):  
Stephanie Austin ◽  
Mugdha Rairikar ◽  
Laura Case ◽  
Lauren Bailey ◽  
Zoheb Kazi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Late Onset ◽  
The Common ◽  
C 32 ◽  
Insight Into

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

2015 ◽  
Vol 25 (9) ◽  
pp. 719-724 ◽  
Author(s):  
Olimpia Musumeci ◽  
Andrea Thieme ◽  
Kristl G. Claeys ◽  
Stephan Wenninger ◽  
Rudolf A. Kley ◽  
...  
Keyword(s):  
Splice Site ◽  
Pompe Disease ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
The Common ◽  
C 32 ◽  
Gaa Gene

scholarly journals Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

2017 ◽  
Vol 122 (3) ◽  
pp. 99-107 ◽  
Author(s):  
Mugdha V. Rairikar ◽  
Laura E. Case ◽  
Lauren A. Bailey ◽  
Zoheb B. Kazi ◽  
Ankit K. Desai ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Late Onset ◽  
The Common ◽  
C 32 ◽  
Insight Into

scholarly journals Novel Mutations Found in Individuals with Adult-Onset Pompe Disease

Genes ◽  
2020 ◽  
Vol 11 (2) ◽  
pp. 135 ◽  
Author(s):  
May T. Aung-Htut ◽  
Kristin A. Ham ◽  
Michel C. Tchan ◽  
Sue Fletcher ◽  
Steve D. Wilton
Keyword(s):  
Pompe Disease ◽  
Progressive Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Adult Onset ◽  
Novel Mutations ◽  
Severity Of Disease ◽  
Skeletal Muscle Weakness ◽  
The Common ◽  
C 32

Pompe disease, or glycogen storage disease II is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α-1,4-glucosidase enzyme (GAA). The severity of disease and observed time of onset is subject to the various combinations of heterozygous GAA alleles. Here we have characterized two novel mutations: c.2074C>T and c.1910_1918del, and a previously reported c.1082C>G mutation of uncertain clinical significance. These mutations were found in three unrelated patients with adult-onset Pompe disease carrying the common c.-32-13T>G mutation. The c.2074 C>T nonsense mutation has obvious consequences on GAA expression but the c.1910_1918del (deletion of 3 amino acids) and c.1082C>G missense variants are more subtle DNA changes with catastrophic consequences on GAA activity. Molecular and clinical analyses from the three patients corresponded with the anticipated pathogenicity of each mutation.

scholarly journals Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

2017 ◽  
Vol 7 ◽  
pp. 90-100 ◽  
Author(s):  
Erik van der Wal ◽  
Atze J. Bergsma ◽  
Joon M. Pijnenburg ◽  
Ans T. van der Ploeg ◽  
W.W.M. Pim Pijnappel
Keyword(s):  
Pompe Disease ◽  
Antisense Oligonucleotides ◽  
Exon Inclusion ◽  
Splicing Variant ◽  
The Common ◽  
C 32

scholarly journals Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

2013 ◽  
Vol 42 (2) ◽  
pp. 1291-1302 ◽  
Author(s):  
A. Dardis ◽  
I. Zanin ◽  
S. Zampieri ◽  
C. Stuani ◽  
A. Pianta ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Therapeutic Agents ◽  
Gene Identification ◽  
The Common ◽  
C 32 ◽  
Gaa Gene

scholarly journals Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts

2021 ◽  
Vol 20 ◽  
pp. 227-236
Author(s):  
Emanuele Buratti ◽  
Paolo Peruzzo ◽  
Luca Braga ◽  
Irene Zanin ◽  
Cristiana Stuani ◽  
...  
Keyword(s):  
Late Onset ◽  
Deferoxamine Mesylate ◽  
The Common ◽  
C 32

scholarly journals Genotype-Phenotype correlation of 17 cases of Pompe Disease in Spanish Patients and Identification of 4 Novel Mutations

2020 ◽  
Author(s):  
Paula Hernandez-Arevalo ◽  
Jose D. Santotoribio ◽  
Rocio Delarosa-Rodriguez ◽  
Antonio Gonzalez-Meneses ◽  
Salvador Garcia-Morillo ◽  
...  
Keyword(s):  
Pompe Disease ◽  
European Population ◽  
Exercise Intolerance ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
C 32 ◽  
Gaa Gene ◽  
Generation Sequencing ◽  
Worse Prognosis ◽  
New Mutations

Abstract Background: Pompe disease (PD) is an autosomal recessive metabolic disorder caused by mutations in the acid α-glucosidase gene (GAA) that produces defects in the lysosomal acid α-1,4-glucosidase. We aimed to identify genetic variations and clinical features in Spanish subjects to establish genotype-phenotype correlation.Methods: A total of 2709 subjects who showed symptoms or susceptible signs of PD were enrolled in this observational study. Enzymatic activity was detected by fluorometric techniques and the genetic study was carried out using Next-Generation Sequencing.Results: Fourteen different variants from seventeen patients were identified, four of whom had not been described in the literature previously, including a homozygous variant. In all of them α-glucosidase activity was decreased. Muscle weakness, respiratory distress, exercise intolerance, hypotonia, dysphagia and myalgia were commonly observed in patients. Conclusions: This study report four new mutations that contribute to the mutation spectrum of the GAA gene. We confirm that patients in Spain have a characteristic profile of a European population, with c.-32-13T> G being the most prevalent variant. Furthermore, it was confirmed that the c.236_246delCCACACAGTGC mutation in homozygosis is associated with early disease and a worse prognosis.

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