New mutations of the HPRT gene in Lesch-Nyhan syndrome

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 hypoxanth ine guanine phosphoribosyl-transferase is responsible for the disease. The human HPRT gene is located at Xq26-27 and consists of 57 base pairs. At lea st 2,000 mutations throughout the HPRT gene coding region from exon 1-9 hav e been reported. Four patients from three Chinese families were diagnosed w ith Lesch-Nyhan syndrome according to the clinical and laboratory findings. DNA studies revealed the first family (Patients 1 and 2) had a missense mu tation 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 (Pati ent 4) carried a mutation in the splicing region of intron 4 of the HPRT ge ne. All three mutations were de novo, (C) 2000 by Elsevier Science Inc. All rights reserved.