ArticleBMC medical genetics2014
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 44 citations in OpenAlex.
- A young woman with dramatic pulmonary hypertension and respiratory failure: a case report.Frontiers in medicine · 2026Article
- Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study.Frontiers in nutrition · 2026Article
- Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.Molecular genetics and metabolism reports · 2025Article
- Interplay between mitochondrial dysfunction and lysosomal storage: challenges in genetic metabolic muscle diseases with a focus on infantile onset Pompe disease.Frontiers in cardiovascular medicine · 2024Article
- Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study.JIMD reports · 2024Article
- Article
- Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.Orphanet journal of rare diseases · 2023Article
- Article
- The Clinical Management of Pompe Disease: A Pediatric Perspective.Children (Basel, Switzerland) · 2022Review
- High-risk screening of late-onset Pompe disease: A different early portrait in China.Frontiers in neurology · 2022Article
- Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.Neurology. Genetics · 2021Article
- Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.Annals of translational medicine · 2021Article
- Broad variation in phenotypes for common GAA genotypes in Pompe disease.Human mutation · 2021Article
- Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.Molecular genetics and metabolism reports · 2021Article
- Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.Orphanet journal of rare diseases · 2021Observational
- Article
- Long-Term Observation of the Safety and Effectiveness of Enzyme Replacement Therapy in Japanese Patients with Pompe Disease: Results From the Post-marketing Surveillance.Neurology and therapy · 2019Article
- Molecular genetics of Pompe disease: a comprehensive overview.Annals of translational medicine · 2019Review
- Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.Annals of translational medicine · 2019Article
- Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.Korean journal of pediatrics · 2019Article
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8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene. The GAA mutation pattern in mainland Chinese patients with late-onset Pompe disease is still not well understood.
methodsWe presented the clinical and genetic characteristics of 27 mainland Chinese late-onset Pompe patients from 24 families.
resultsGAA mutation analysis revealed 26 different mutations, including 10 that were novel. The allelic frequency of c.2238G > C (p.W746C) was found to be 27.08% in this patient group. Respiratory dysfunction was diagnosed in 10 of 11 patients who underwent pulmonary function evaluation, although only four required ventilator support at night.
conclusionsOur findings indicate that c.2238G > C (p.W746C) is the most common mutation in mainland Chinese late-onset Pompe patients, as observed in Taiwanese patients. The novel mutations identified in this study expand the genetic spectrum of late-onset Pompe disease, and the prevalence of respiratory dysfunction highlights the importance of monitoring pulmonary function in late-onset Pompe patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.