Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

• Autorzy: Popowska E , Sulek A. , Kubalska J. , Pronicka E. , Jezewska M. , Trembacz H. , Goryluk-Kozakiewicz B. , Krajewska-Walasek M.
• Języki publikacji: EN

Abstrakty

EN

Five families with the Lesch-Nyhan syndrome (LNS) and two families with the Kelley-Seegmiller syndrome (KSS) were studied. Seven different mutations were identified. Two transitions, C526→ T (Prol76Ser) and G481→A (Ala161Thr), in patients with a milder form of hypoxanthine-guanine phosphoribo-syltransferase (HPRT) deficiency were detected. In patients with the Lesch-Nyhan syndrome two transitions, G569→A (Glyl90Glu) and C508→T (Arg170Ter), two transversions, C222→A (Phe74Leu) and C482→A (Ala161Glu), and a deletion of seven nucleotides (from A394 to G400) were observed. All except two of the identified mutations are novel. The C222→A substitution in exon III is located within one of the clusters of hot spots of the HPRT gene and has been previously described in four unrelated patients. The other recurrent mutation C508→T in exon VII has been reported in eight families.

Słowa kluczowe

EN

deletion; Lesch Nyhan syndrome; Kelley-Seegmiller syndrome; hypoxanthine-guanine phosphoribosyltransferase deficiency; enzyme activity; Polish patient; point mutation

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 1998
• Tom: 39
• Numer: 1
• Opis fizyczny: p.103-111,fig.

Twórcy

autor

Popowska E

• Children's Memorial Health Institute, Al.Dzieci Polskich 20, 04-736 Warszawa, Poland

autor

Sulek A.

autor

Kubalska J.

autor

Pronicka E.

autor

Jezewska M.

autor

Trembacz H.

autor

Goryluk-Kozakiewicz B.

autor

Krajewska-Walasek M.

Bibliografia

• Alford R.L., Redman J.B., O’Brien W.E., Caskey C.T. (1995). Lesch-Nyhan syndrome: carrier and prenatal diagnosis. Prenat. Diagn. 15: 329-338.
• Burgemeister R., Gutensohn W., Van den Berghe G., Jaeken J. (1995). Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies. In: Purine and pyrimidine metabolism in man VIII (Sahota A. and Taylor M. eds). Plenum Press, New York: 331-335.
• Cooper D.N., Krawczak M. (1990). The mutational spectrum of single base pair substitutions causing human genetic disease: patterns and predictions. Hum. Genet. 85: 55-74.
• Davidson B., Pashmforoush M., Kelley W., Palella T. (1988). Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in patient with the Lesch-Nyhan syndrome (HPRTFlint). Gene 63: 331-336.
• Davidson B. L., Tarlé S.A., Palella T.D., Kelley W.N. (1989). Molecular basis of hypoxanthine - guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. J. Clin. Invest. 84: 342-346.
• Davidson B.L., Tarlé S.A., Van Antwerp M., Gibbs R.A., Watts R.W.E., Kelley W.N., Palella T.D. (1991). Identification of 17 independent mutations responsible for human hypoxanthine - guanine phosphoribosyltransferase (HPRT) deficiency. Am. J. Hum. Genet. 48: 951-958.
• Edwards A., Voss H., Rice P., Civitello A., Stegemann J., Schwager C., Zimmermann J., Erfle H., Caskey C.T., Ansorge W. (1990). Automated DNA sequencing of the human HPRT locus. Genomics 6: 593-608.
• Gathof B.S., Jurgens D., Gresser U. (1995). Clinical symptoms of patients with partial HPRT deficiency. In: Purine and pyrimidine metabolism in man. VIII (Sahota A. and Taylor M. eds). Plenum Press, New York: 341-344.
• Gibbs R.A., Nguyen P.-N., McBride LJ., Koepf S.M., Caskey C.T. (1989). Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc. Nat. Acad. Sci. USA 86: 1919-1923.
• Gutensohn W., Guroff G. (1972). A rapid assay for purine phosphoribosyltransferases. Analyt. Biochem. 47: 132-138.
• Kelley W.N., Greene M.L., Rosenbloom F.M., Henderson J.F., Seegmiller J.E. (1969). Hypoxanthine - guanine phosphoribosyltransferase deficiency in gout. Ann. Intern. Med. 70: 155-206.
• Kelley W.N., Rosenbloom F.M., Henderson J.F., Seegmiller J.E. (1967). A specific enzyme defect in gout associated with overproduction of uric acid. Proc. Nat. Acad. Sci. USA 57: 1735-1739.
• King A., Melton D.W. (1987). Characterization of cDNA clones of hypoxanthine - guanine phosphoribosyltransferase from the human malarial parasite, Plasmodium falciparum: comparisons to the mammalian gene and protein. Nucl. Acids Res. 15: 10469-10481.
• Lesch M., Nyhan W.L. (1964). A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med. 36: 561-570.
• Marcus S., Steen A.M., Andersson В., Lambert B., Kristoffersson U., Francke U. (1992). Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests. Hum. Genet. 89: 395-400.
• Mateos F.A., Рuig J.G. (1994). Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome. J. Inher. Metab. Dis. 17: 138-142.
• McKussick V.A. (1997). Mendelian inheritance in man: *308000 Hypoxanthine guanine phosphoribosyltransferase 1; HPRT1. http://www3.ncbi.nlm.nih.gov/htbi...t/Omin/ dispmin?308000# Variant List.
• Rijksen G., Staal G.E.J., Van der Vlist M.J.M. Beemer F.A., Troost J., Gutensohn W., Van Laarhoven J.P.R.M., De Bruyn C.H.M.M. (1981). Partial hypoxanthine - guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome. Hum. Genet. 57: 39-47.
• Rossiter B.J.F., Caskey C.T. (1995). Hypoxanthine - guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and gout. In: The metabolic and molecular basis of inherited disease (Scriver C.R., Beaudet A.L., Sly W.S., Valle D. eds). 7th edn., New York: McGraw-Hill.
• Sculley D.G., Dawson P.A., Beacham J.R., Emmerson B.T., Gordon R.B. (1991). Hypoxanthine - guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele - specific amplification. Hum. Genet. 87: 688-692.
• Sculley D.G., Dawson P.A., Emmerson B.T., Gordon R.B. (1992). A review of the molecular basis of hypoxanthine - guanine phosphoribosyltransferase (HPRT) deficiency. Hum. Genet. 90: 195-207.
• Tarlé S.A., Davidson B.L., Wu V.C., Zidar F.J., Seegmiller J.E., Kelley W.N., Palella T.D. (1991). Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. Genomics 10: 499-501.
• Wilson J.M., Stout J.T., Palella T.D., Davidson B.L., Kelley W.N., Caskey C.T. (1986). A molecular survey of hypoxanthine - guanine phosphoribosyltransferase deficiency in man. J. Clin. Invest. 77: 188-195.
• Yamada Y., Goto H., Suzumori K., Adachi R., Ogasawara N. (1992). Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine - guanine phosphoribosyltransferase (HPRT) deficiency. Hum. Genet. 90: 379-384.