title: Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.
abstract: Mutations of two enzyme genes, HPRT1 encoding hypoxanthine guanine phosphoribosyltransferase (HPRT) and PRPS1 encoding a catalytic subunit (PRS-I) of phosphoribosylpyrophosphate synthetase, cause X-linked inborn errors of purine metabolism. Analyzing these two genes, we have identified three HPRT1 mutations in Lesch-Nyhan families following our last report. One of them, a new mutation involving the deletion of 4224 bp from intron 4 to intron 5 and the insertion of an unknown 28 bp, has been identified. This mutation resulted in an enzyme polypeptide with six amino acids deleted due to abnormal mRNA skipping exon 5. The other HPRT1 mutations, a single base deletion (548delT, 183fs189X), and a point mutation causing a splicing error (532+1G>A, 163fs165X) were detected first in Japanese patients but have been reported in European families. On the other hand, in the analysis of PRPS1, no mutation was identified in any patient.
authors: Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Aichi, Japan. yasyam@inst-hsc.jp
authors: Yasukazu
authors: Y
authors: Yamada
authors: Kenichiro
authors: K
authors: Yamada
authors: Noriko
authors: N
authors: Nomura
authors: Arisa
authors: A
authors: Yamano
authors: Reiko
authors: R
authors: Kimura
authors: Misako
authors: M
authors: Naiki
authors: Daisuke
authors: D
authors: Fukushi
authors: Nobuaki
authors: N
authors: Wakamatsu
authors: Atsuo
authors: A
authors: Taniguchi
authors: Noriko
authors: N
authors: Yamaoka
authors: Kiyoko
authors: K
authors: Kaneko
authors: Shin
authors: S
authors: Fujimori
mesh_terms: D040181:Genetic Diseases, X-Linked / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000235:genetics*
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase; D012268:Ribose-Phosphate Pyrophosphokinase