title: A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT OSAKA).
abstract: A virtually complete deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT) causes Lesch-Nyhan syndrome. A novel mutation of HPRT gene in a Japanese Lesch-Nyhan family has been identified using mRNA and genomic DNA from peripheral blood cells. A single nucleotide substitution of T to C in exon 3 resulted in a mis-sense mutation, CTC (Leu) to CCC (Pro), at codon 65. Utilizing an Mn/I restriction site which was lost in the mutation as an indicator, a family study showed that the mother was normal not having the mutant gene. The mutation was a de novo event that had occurred in the germ cells of the mother or in the proband during the early phase of fetal development.
authors.affiliation: Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Goto
authors.forename: M
authors.initials: M
authors.lastname: Shiomi
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.forename: K
authors.initials: K
authors.lastname: Higashino
authors.forename: N
authors.initials: N
authors.lastname: Ogasawara
mesh_terms: D004247:DNA / Q000097:blood; D005314:Embryonic and Fetal Development / Q000235:genetics; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000737:chemistry / Q000235:genetics*; D007223:Infant; D007564:Japan; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D012333:RNA, Messenger / Q000097:blood; D017422:Sequence Analysis, DNA
chemical_list: D012333:RNA, Messenger; D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase