ArticleGenetics and molecular biology2026
Variant profile of Brazilian patients with Sanfilippo syndrome type B.
Article in Genetics and molecular biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Mucopolysaccharidosis type IIIB (MPS IIIB, or Sanfilippo syndrome type B) is a lysosomal storage disorder caused by variants in the NAGLU gene, leading to heparan sulfate accumulation. This study analyzed 27 MPS IIIB Brazilian patients diagnosed via the MPS Brazil Network (2014-2022). Diagnosis involved biochemical tests [NAGLU enzyme activity, urinary glycosaminoglycans (GAG)], showing expected low activity of the enzyme and high concentration of GAGs. Molecular analysis of the NAGLU gene by Sanger sequencing or Targeted Next-Generation Sequencing confirmed the diagnosis. Forty-nine variants were found across patient alleles, comprising twenty-two different variants. Two variants were described for the first time: p.Gly79Arg and p.Leu598Pro (both missense). In silico tools predicted the novel variants as damaging/deleterious. The study identified 90.7% of the expected mutant alleles, observing variant heterogeneity and a higher frequency of missense variants. This characterization enhances understanding of the Brazilian MPS IIIB genetic landscape and is instrumental to the design of diagnostic and screening strategies.
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