title: Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome.
abstract: Lesch-Nyhan syndrome is caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT) encoded by HPRT1. About 20% of patients have a deletion of HPRT1 and large deletions of HPRT1 are not always fully characterized at the molecular level. Here, we report on a case of Lesch-Nyhan syndrome with a 33-kb deletion involving exon 1 of HPRT1. This novel mutation is caused by a nonhomologous recombination between different classes of interspersed repetitive DNA.
authors: Institute of Rheumatology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan. amtanigu@ior.twmu.ac.jp
authors: A
authors: A
authors: Taniguchi
authors: Y
authors: Y
authors: Yamada
authors: M
authors: M
authors: Hakoda
authors: C
authors: C
authors: Sekita
authors: M
authors: M
authors: Kawamoto
authors: H
authors: H
authors: Kaneko
authors: H
authors: H
authors: Yamanaka
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D056905:Chromosome Breakpoints; D017353:Gene Deletion; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase