title: Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
abstract: Mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior, or HPRT-related gout with hyperuricemia. Four mutations were detected in two Lesch-Nyhan families and two families with partial deficiency since our last report. A new mutation of G to TT (c.456delGinsTT) resulting in a frameshift (p.Q152Hfs*3) in exon 3 has been identified in one Lesch-Nyhan family. In the other Lesch-Nyhan family, a new point mutation in intron 7 (c.532+5G>T) causing splicing error (exon 7 excluded, p.L163Cfs*4) was detected. In the two partial deficiency cases with hyperuricemia, two missense mutations of p.D20V (c.59A>T) and p.H60R (c.179A>G) were found. An increase of erythrocyte PRPP concentration was observed in the respective phenotypes and seems to be correlated with disease severity.
authors.affiliation: a Department of Genetics, Institute for Developmental Research , Aichi Human Service Center , Aichi , Japan.
authors.forename: Yasukazu
authors.initials: Y
authors.lastname: Yamada
authors.forename: Noriko
authors.initials: N
authors.lastname: Nomura
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Yamada
authors.forename: Reiko
authors.initials: R
authors.lastname: Kimura
authors.forename: Daisuke
authors.initials: D
authors.lastname: Fukushi
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Wakamatsu
authors.forename: Yasufumi
authors.initials: Y
authors.lastname: Matsuda
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yamauchi
authors.forename: Takanori
authors.initials: T
authors.lastname: Ueda
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Hasegawa
authors.forename: Makiko
authors.initials: M
authors.lastname: Nakamura
authors.forename: Kimiyoshi
authors.initials: K
authors.lastname: Ichida
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Kaneko
authors.forename: Shin
authors.initials: S
authors.lastname: Fujimori
mesh_terms: D044466:Asian People / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000097:blood* / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D012268:Ribose-Phosphate Pyrophosphokinase / Q000097:blood*
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase; D012268:Ribose-Phosphate Pyrophosphokinase
keywords: HPRT; Lesch–Nyhan syndrome; PRPP concentration; mutations