Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.
Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. It is caused by a deficiency of N-acetylglucosamine-6-sulphatase, which is one of the enzymes involved in the catabolism of heparan sulphate. We present the clinical, biochemical, and, for the first time, the molecular diagnosis of a patient with Sanfilippo D disease. The patient was found to be homozygous for a single base pair deletion (c1169delA), which will cause a frameshift and premature termination of the protein. Accurate carrier detection is now available for other members of this consanguineous family.
Beesley
C E
CE
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. C.Beesley@ich.ucl.ac.uk
Burke
D
D
Jackson
M
M
Vellodi
A
A
Winchester
B G
BG
Young
E P
EP
D001483:Base Sequence; D002675:Child, Preschool; D003241:Consanguinity; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D008297:Male; D009084:Mucopolysaccharidosis III / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D017384:Sequence Deletion; D013429:Sulfatases / Q000172:deficiency / Q000235:genetics* / Q000652:urine
D004247:DNA; D013429:Sulfatases; C018719:N-acetylglucosamine-6-sulfatase