title: Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.
abstract: 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.
authors.affiliation: 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
authors.forename: C E
authors.initials: CE
authors.lastname: Beesley
authors.forename: D
authors.initials: D
authors.lastname: Burke
authors.forename: M
authors.initials: M
authors.lastname: Jackson
authors.forename: A
authors.initials: A
authors.lastname: Vellodi
authors.forename: B G
authors.initials: BG
authors.lastname: Winchester
authors.forename: E P
authors.initials: EP
authors.lastname: Young
mesh_terms: 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
chemical_list: D004247:DNA; D013429:Sulfatases; C018719:N-acetylglucosamine-6-sulfatase