title: The spectrum of mutations causing HPRT deficiency: an update.
abstract: Mutations in the gene encoding hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause Lesch-Nyhan disease, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior. Mutations in the same gene also cause less severe clinical phenotypes with only some portions of the full syndrome. A large database of 271 mutations associated with both full and partial clinical phenotypes was recently compiled. Since the original database was assembled, 31 additional mutations have been identified, bringing the new total to 302. The results demonstrate a very heterogeneous collection of mutations for both LND and its partial syndromes. The differences between LND and the partial phenotypes cannot be explained by differences in the locations of mutations, but the partial phenotypes are more likely to have mutations predicted to allow some residual enzyme function. The reasons for some apparent exceptions to this proposal are addressed.
authors.affiliation: Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA.
authors.forename: H A
authors.initials: HA
authors.lastname: Jinnah
authors.forename: J C
authors.initials: JC
authors.lastname: Harris
authors.forename: W L
authors.initials: WL
authors.lastname: Nyhan
authors.forename: J P
authors.initials: JP
authors.lastname: O'Neill
mesh_terms: D019992:Databases as Topic; D005838:Genotype; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D013577:Syndrome
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase