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Morquio B disease: From pathophysiology towards diagnosis
Anna Caciotti1, Lucrezia Cellai1, Rodolfo Tonin1
1Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Florence, Italy.
Molecular Genetics and Metabolism
|February 9, 2021
Summary
Morquio B disease, a rare beta-galactosidase deficiency, involves keratan sulfate accumulation. This study identifies novel GLB1 mutations and proposes an improved diagnostic plan to prevent misdiagnosis.
Area of Science:
- Biochemistry
- Genetics
- Rare Diseases
Background:
- Morquio B disease is a rare, attenuated form of beta-galactosidase (GLB1) deficiency.
- Characterized by skeletal abnormalities and heart valve defects due to keratan sulfate accumulation.
- Distinct from GM1 gangliosidosis due to normal neurological development in Morquio B patients.
Purpose of the Study:
- To report clinical-biochemical data of nine Morquio B patients.
- To characterize novel mutations in the GLB1 gene.
- To propose an improved diagnostic strategy for Morquio B disease.
Main Methods:
- LC-MS/MS analysis of urinary keratan sulfate.
- Electrophoresis for glycosaminoglycans analysis.
- Molecular analyses including gene, gene expression, protein expression, and copy number variation assays for the GLB1 gene.
Main Results:
- LC-MS/MS detected high keratan sulfate levels, which electrophoresis missed.
- Three novel GLB1 mutations were identified in three heterozygous patients.
- A copy number variation assay for GLB1 deletions/insertions was established.
Conclusions:
- LC-MS/MS is a sensitive method for detecting keratan sulfate in Morquio B.
- Identification of novel GLB1 mutations expands the understanding of genotype-phenotype correlations.
- A comprehensive diagnostic plan can improve Morquio B patient management and avoid misdiagnosis.
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