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Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis
Lorena Diaz-Ordoñez1,2, Paola Andrea Duque-Cordoba1, Daniel Andrés Nieva-Posso3
1Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia.
JMIR Research Protocols
|November 14, 2024
Summary
This meta-analysis examines genotype-phenotype correlations in Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome. Findings will aid in predicting disease progression and severity for better patient management.
Area of Science:
- Genetics
- Biochemistry
- Rare Diseases
Background:
- Mucopolysaccharidosis type IVA (MPS IVA), or Morquio A syndrome, is a rare genetic disorder caused by GALNS gene mutations.
- It leads to glycosaminoglycan accumulation, affecting skeletal, joint, and organ systems, causing diverse symptoms.
- Understanding the genotype-phenotype relationship is key for prognosis and treatment.
Purpose of the Study:
- To analyze the relationship between genotype and phenotype severity in MPS IVA patients.
- To investigate the impact of variant type and location on disease presentation.
Main Methods:
- Meta-analysis of studies with molecularly diagnosed MPS IVA patients and phenotype descriptions.
- Literature search across PubMed, MEDLINE, ScienceDirect, and Scopus.
- Data extraction and analysis by two independent reviewers using SPSS, including chi-square and regression analyses.
Main Results:
- A literature search in January 2024 yielded 760 results.
- The full review and analysis are anticipated by the end of 2024.
Conclusions:
- This meta-analysis will consolidate and analyze genotype-phenotype data for MPS IVA.
- The findings will enhance understanding of disease mechanisms, aiding in predicting progression and severity.
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