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Article

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

Human mutation - 1 May 2007

Fedele Anthony Olind, Filocamo Mirella, Di Rocco Maja, Sersale Giovanna, Lübke Torben, di Natale Paola, Cosma Maria Pia, Ballabio Andrea

Abstract excerpt

Mucopolysaccharidosis (MPS) describes any inherited lysosomal storage disorder resulting from an inability to catabolize glycosaminoglycans. MPS III (or Sanfilippo syndrome) is an autosomal recessive disease caused by a failure to degrade heparan sulphate. There are four subtypes of MPS III, each categorized by a deficiency in a specific enzyme involved in the heparan sulphate degradation pathway. The genes...

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Identifiers

PMID: 17397050
DOI: 10.1002/humu.9488

Genes

HGSNAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.PMID 17397050Read ↗

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.Semantic proximity Read ↗

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).Semantic proximity Read ↗

Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.Semantic proximity Read ↗

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.Semantic proximity Read ↗

Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review.Semantic proximity Read ↗

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the diseaseSemantic proximity Read ↗

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).Semantic proximity Read ↗

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.Semantic proximity Read ↗

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.Semantic proximity Read ↗

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A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.Semantic proximity Read ↗

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