Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
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.
Yamada
Yasukazu
Y
Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai Aichi, Japan. yasyam@inst-hsc.jp
Nomura
Noriko
N
Yamada
Kenichro
K
Wakamatsu
Nobuaki
N
Kaneko
Kiyoko
K
Fujimori
Shin
S
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
D012333:RNA, Messenger; D007041:Hypoxanthine Phosphoribosyltransferase