title: Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
abstract: An early presentation of heparan N-sulphatase (SGSH) deficiency (mucopolysaccharidosis IIIA, MPS IIIA) with a prominent and isolated hepato-splenomegaly is described. Molecular analysis detected a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P).
authors.affiliation: Department of Biochemistry, Centre Hospitalier Universitaire de Nice, Nice, France. bekri.s@chu-nice.fr
authors.forename: S
authors.initials: S
authors.lastname: Bekri
authors.forename: G
authors.initials: G
authors.lastname: Armana
authors.forename: D
authors.initials: D
authors.lastname: De Ricaud
authors.forename: M
authors.initials: M
authors.lastname: Osenda
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: E
authors.initials: E
authors.lastname: Van Obberghen
authors.forename: R
authors.initials: R
authors.lastname: Froissart
mesh_terms: D018389:Codon, Nonsense; D004452:Echocardiography; D005260:Female; D006529:Hepatomegaly / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense; D010879:Piperazines / Q000494:pharmacology; D011687:Purines; D000068677:Sildenafil Citrate; D013163:Splenomegaly / Q000175:diagnosis / Q000235:genetics; D013429:Sulfatases / Q000172:deficiency* / Q000235:genetics*; D013450:Sulfones; D013997:Time Factors; D014665:Vasodilator Agents / Q000494:pharmacology
chemical_list: D018389:Codon, Nonsense; D010879:Piperazines; D011687:Purines; D013450:Sulfones; D014665:Vasodilator Agents; D000068677:Sildenafil Citrate; D013429:Sulfatases; C021346:heparan sulfate sulfatase