Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
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).
Bekri
S
S
Department of Biochemistry, Centre Hospitalier Universitaire de Nice, Nice, France. bekri.s@chu-nice.fr
Armana
G
G
De Ricaud
D
D
Osenda
M
M
Maire
I
I
Van Obberghen
E
E
Froissart
R
R
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
D018389:Codon, Nonsense; D010879:Piperazines; D011687:Purines; D013450:Sulfones; D014665:Vasodilator Agents; D000068677:Sildenafil Citrate; D013429:Sulfatases; C021346:heparan sulfate sulfatase