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Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

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Same author

Antibody formation and efficacy of enzyme replacement therapy in adults with Pompe disease: Unlocking long-term insights.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Response to: Correspondence on 'Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements' by Barzel <i>et al</i>.

European journal of hospital pharmacy : science and practice·2025
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Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy·2025
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Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy·2025
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Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

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Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements.

European journal of hospital pharmacy : science and practice·2025

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Updated: May 25, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Published on: December 20, 2017

The genotype-phenotype correlation in Pompe disease.

Marian Kroos1, Marianne Hoogeveen-Westerveld, Ans van der Ploeg

  • 1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|January 19, 2012
PubMed
Summary

Pompe disease, a genetic disorder, shows a strong link between genotype and phenotype. However, other factors can influence disease severity, highlighting the need for further research into these modifiers.

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Pompe disease is an autosomal recessive lysosomal glycogen storage disorder.
  • It results from acid α-glucosidase (GAA) deficiency due to pathogenic variations in the GAA gene.
  • A strict genotype-phenotype correlation is generally observed.

Purpose of the Study:

  • To explore the relationship between GAA genotype and phenotype in Pompe disease.
  • To investigate factors that may modify the clinical course and disturb the genotype-phenotype correlation.
  • To identify potential therapeutic targets by understanding these modifying factors.

Main Methods:

  • Analysis of GAA gene sequence variations and their correlation with clinical phenotypes.
  • Enzyme activity measurements in patients with different disease severities and onset ages.
  • Examination of specific haplotypes (e.g., c.-32-13C>T) and their impact on disease presentation.

Main Results:

  • Patients with classic infantile Pompe disease have mutations that abolish GAA function.
  • Adult-onset Pompe disease typically presents with measurable GAA activity, often higher than in infantile cases.
  • Variability in clinical presentation exists even among patients with the same GAA genotype, indicating the influence of modifying factors.

Conclusions:

  • While GAA genotype is a primary determinant of Pompe disease phenotype, modifying factors significantly impact clinical diversity.
  • Identifying these factors is crucial for a comprehensive understanding of Pompe disease.
  • Further research into these modifiers may reveal novel therapeutic strategies for Pompe disease.