title: An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.
abstract: The Sanfilippo type A syndrome, one of the most frequent forms of mucopolysaccharidosis III, is characterized by severe mental retardation, progressive neurological degeneration, and mild somatic changes. It is due to a deficiency of heparan-N-sulfatase (sulfamidase) activity and consequent excretion of heparan sulfate in the urine. The disease is transmitted through an autosomal recessive mechanism, and more than 60 gene mutations have been identified. Up to now, only 10 cases of attenuated form of Sanfilippo type A syndrome have been described, and the specific mutation has been identified only in two of them. We report here on a female patient, 20 years old, with Sanfilippo type A syndrome presenting with a mild clinical phenotype characterized essentially by a moderate nonevolving mental retardation. The genetic analysis demonstrated that the patient is homozygous for mutation R206P; presence of polymorphism R456H was also found. This study places R206P as a mild mutation underlying Sanfilippo type A disease.
authors.affiliation: Institute of Maternal-Infantile Sciences, Polytechnic University of Marche, Ancona, Italy. o.gabrielli@mercurio.it
authors.forename: Orazio
authors.initials: O
authors.lastname: Gabrielli
authors.forename: Giovanni V
authors.initials: GV
authors.lastname: Coppa
authors.forename: Stefano
authors.initials: S
authors.lastname: Bruni
authors.forename: Guglielmo R D
authors.initials: GR
authors.lastname: Villani
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Pontarelli
authors.forename: Paola
authors.initials: P
authors.lastname: Di Natale
mesh_terms: D000328:Adult; D005260:Female; D006720:Homozygote; D006801:Humans; D006867:Hydrolases / Q000172:deficiency / Q000235:genetics*; D008607:Intellectual Disability / Q000473:pathology; D009084:Mucopolysaccharidosis III / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense
chemical_list: D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase