ArticleOrphanet journal of rare diseases2025
Analysis of genomic ancestry and characterization of a new variant in MPS type VII.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.Biomolecules · 2025Review
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15 authors.
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Abstract
backgroundMucopolysaccharidosis (MPS) type VII is a storage disorder of autosomal recessive origin that is caused by a deficiency in a lysosomal enzyme that results in the accumulation of glycosaminoglycans and causes secondary metabolic pathway problems. It has systemic symptoms that mainly include progressive skeletal dysplasia, cardiovascular manifestations, hepatosplenomegaly, coarse facies, and many other manifestations, and cognitive decline is observed in most cases. A significant proportion of patients may present with foetal hydrops. Allelic variations in specific ethnic groups explain the higher incidence in some groups due to founder effects and/or endogamy. In Brazil, the most common variant is p.Leu176Phe. This study aimed to investigate GUSB gene expression in a patient with MPS VII with a new mutation (p.Leu292Pro). Additionally, this study investigated the ancestry of 5 patients with MPS VII from Brazil to understand the Amerindian, African, and European contributions.
resultsThe analysis revealed varying proportions of ancestry markers in the sample of patients with MPS VII. The European contribution was more prominent and significantly different (p = 0.0031) from the African contribution. Relative expression analysis by the 2
conclusionsThe p.Leu176Phe mutation may have originated in Europe, as suggested in this study. There is a discrepancy between the mRNA levels of GUSB and the amount of beta-glucuronidase synthesized. The expression of the GUSB gene variant from the patient with MPS VII was within the range of the control group's distribution in this study. The p.Leu292Pro mutation is pathogenic, but its impact on the MPS VII phenotype still needs to be fully elucidated.
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