title: New mutations of the HPRT gene in Lesch-Nyhan syndrome.
abstract: Lesch-Nyhan syndrome is an X-linked recessive disorder involving the purine metabolism, with resultant hyperuricemia, choreoathetosis, self-mutilation, and profound neurologic dysfunction. A deficiency of the enzyme hypoxanthine guanine phosphoribosyl-transferase is responsible for the disease. The human HPRT gene is located at Xq26-27 and consists of 57 base pairs. At least 2,000 mutations throughout the HPRT gene coding region from exon 1-9 have been reported. Four patients from three Chinese families were diagnosed with Lesch-Nyhan syndrome according to the clinical and laboratory findings. DNA studies revealed the first family (Patients 1 and 2) had a missense mutation in exon 3 of the HPRT encoding region. This novel mutation occurs in the hot spot of the HPRT gene. The second family (Patient 3) was found to have a missense mutation in exon 8 of the HPRT gene. The third family (Patient 4) carried a mutation in the splicing region of intron 4 of the HPRT gene. All three mutations were de novo.
authors.affiliation: Department of Pediatrics, Taichung Veterans General Hospital;, Taichung, Taiwan.
authors.forename: B S
authors.initials: BS
authors.lastname: Mak
authors.forename: C S
authors.initials: CS
authors.lastname: Chi
authors.forename: C R
authors.initials: CR
authors.lastname: Tsai
authors.forename: W J
authors.initials: WJ
authors.lastname: Lee
authors.forename: H Y
authors.initials: HY
authors.lastname: Lin
mesh_terms: D001483:Base Sequence / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase