title: Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
abstract: Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout. We have identified a number of HPRT mutations in patients manifesting different clinical phenotypes, by analyzing all nine exons of the HPRT gene (HPRT1) from genomic DNA and reverse transcribed mRNA using the PCR technique coupled with direct sequencing. Recently, we detected two novel mutations: a single nucleotide substitution (430C > T) resulting in a nonsense mutation Q144X, and a deletion of HPRT1 exon 1 expressing no mRNA of HPRT. Furthermore, we summarized the spectrum of 56 Japanese HPRT mutations.
authors.affiliation: Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai Aichi, Japan. yasyam@inst-hsc.jp
authors.forename: Yasukazu
authors.initials: Y
authors.lastname: Yamada
authors.forename: Noriko
authors.initials: N
authors.lastname: Nomura
authors.forename: Kenichro
authors.initials: K
authors.lastname: Yamada
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Wakamatsu
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Kaneko
authors.forename: Shin
authors.initials: S
authors.lastname: Fujimori
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006073:Gout / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D054643:INDEL Mutation; D007564:Japan; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D017354:Point Mutation; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D007041:Hypoxanthine Phosphoribosyltransferase