Analysis of genomic ancestry and characterization of a new variant in MPS type VII
The 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.
Authors
- Luiz Carlos Santana da Silva (ORCID: https://orcid.org/0000-0003-1017-6221)
- Maira Graeff Burin (ORCID: https://orcid.org/0000-0002-1633-8941)
- Kristiane Michelin‐Tirelli (ORCID: https://orcid.org/0000-0003-2907-5906)
- Franciele Barbosa Trapp (ORCID: https://orcid.org/0000-0001-5464-3763)
- Andreza Juliana Moreira da Costa (ORCID: https://orcid.org/0009-0002-5540-6414)
- André Salim Khayat
- Raimunda Helena Ferreira Feio
- Isabel Cristina Neves de Souza
- Alice Brinckmann Oliveira Netto (ORCID: https://orcid.org/0000-0001-7888-8327)
- Célio Luiz Rafaelli
- Ana Carolina Brusius-Facchin (ORCID: https://orcid.org/0000-0002-1305-7159)
- Ney Pereira Carneiro dos Santos (ORCID: https://orcid.org/0000-0001-8087-7037)
- Roberto Giugliani (ORCID: https://orcid.org/0000-0001-9655-3686)
- Mislene Cisz
- Laurent Ketlen Leão Viana
Institutions
- Universidade Federal do Rio Grande do Sul (BR)
- Santa Casa Hospital (BR)
- Hospital de Clínicas de Porto Alegre (BR)
- Instituto Federal de Educação, Ciência e Tecnologia do Pará (BR)
- National Institute on Population Medical Genetics (BR)
- Universidade Federal do Pará (BR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-04-24
- DOI
- https://doi.org/10.1186/s13023-025-03593-8
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.16
Funders
- Instituto Nacional de Genética Médica Populacional