Abstract
Summary: A patient with hyperuricaemia and gouty arthritis due to a new variant of hypoxanthine–guanine phosphoribosyltransferase is described. The mutation (I136T, HPRT Marseille) is in the phosphoribosylpyrophosphate-binding region of the gene and leads to almost total loss of enzyme activity in erythrocytes, with 5% in lymphocytes. Nevertheless, the patient showed no neurological abnormality.
This is a preview of subscription content, log in via an institution to check access.
REFERENCES
Aral B, de Saint Basile G, Al-Garawi S, et al (1996) Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient. Hum Mutat 7: 52–58.
Eads JC, Scapin G, Xu Y, et al (1994) The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. Cell 78: 325–334.
Fujimori S, Hidaka Y, Davidson BL, et al (1988) Identi?cation of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor). Hum Genet 79: 39–43.
Jinnah HA, De Gregorio L, Harris JC, et al (2000) The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res 463: 309–326.
Keough DT, Gordon RB, de Jersey J, et al (1988) Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency. J Inherit Metab Dis 11: 229–238.
Micheli V, Gathof BS, Rocchigiani M, et al (2002) Biochemical and molecular study of mentally retarded patient with partial deficiency of HPRT. Biochim Biophys Acta 1587: 45–52.
Puig JG, Torres RJ, Mateos FA, et al (2001) The spectrum of HPRT deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine 80: 102–112.
Torres RJ, Mateos FA, Molano J, et al (2000) Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families. Hum Mutat 15: 283.
Zoref-Shani E, Bromberg Y, Hirsch J, et al (2003) A novel point mutation (1137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRT Jerusalem) in a variant of Lesch-Nyhan syndrome. Mol Genet Metab 78: 158–161.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Dussol, B., Ceballos-Picot, I., Aral, B. et al. Kelley–Seegmiller syndrome due to a new variant of the hypoxanthine–guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille). J Inherit Metab Dis 27, 543–545 (2004). https://doi.org/10.1023/B:BOLI.0000037399.72152.a9
Issue Date:
DOI: https://doi.org/10.1023/B:BOLI.0000037399.72152.a9