Analysis of genomic ancestry and characterization of a new variant in MPS type VII

Analysis of genomic ancestry and characterization of a new variant in MPS type VII

Abstract Background Mucopolysaccharidosis (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 main...

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Main Authors: Andreza Juliana Moreira da Costa, Isabel Cristina Neves de Souza, Raimunda Helena Feio, Laurent Ketlen Leão Viana, Mislene Cisz, Célio Luiz Rafaelli, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, André Salim Khayat, Ney Pereira Carneiro dos Santos, Roberto Giugliani, Luiz Carlos Santana-da-Silva
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Ancestry
INDELs markers
MPS VII
Gene expression
Online Access:https://doi.org/10.1186/s13023-025-03593-8
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https://doi.org/10.1186/s13023-025-03593-8

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