Mutation references

The table below lists the literature sources mentioned in the mutation database tables (as can be selected from the menu on the left).

 

References

source
Alonso-Gonzalez, J., Hernandez-Martin, A., Garcia-Penas, J.J., Colmenero, I., and Torrelo, A. (2012). Reticulated pigmentary changes in a patient with a variant form of Lesch-Nyhan disease. Clin Exp Dermatol 37, 569-570.
Aral, B., de Saint, B., Al-Garawi, S., Kamoun, P., and Ceballos-Picot, I. (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.
Bertelli, M., Randi, D., Micheli, V., Gallo, S., Andrighetto, G., Parmigiani, P., Jacomelli, G., Carella, M., Lievore, C., and Pandolfo, M. (2004). Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations. J Inherit Metab Dis 27, 767-773.
Bouwens-Rombouts, A.G., van den Boogaard, M.J., Puig, J.G., Mateos, F.A., Hennekam, R.C., and Tilanus, M.G. (1993). Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene. Hum Genet 91, 451-454.
Boyd, M., Lanyon, W.G., and Connor, J.M. (1993). Screening for molecular pathologies in Lesch-Nyhan syndrome. Hum Mutat 2, 127-130.
Brooks, E.M., Branda, R.F., Nicklas, J.A., and O'Neill, J.P. (2001). Molecular description of three macro-deletions and an alu-alu recombination-mediated duplication in the HPRT gene in four patient with Lesch-Nyhan disease. Mutat Res 476, 43-54.
Burgemeister, R., Gutensohn, W., Van den Berghe, G., and Jaeken, J. (1994). Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies. Adv Exp Med Biol 370, 331-335.
Chang, S.J., Chang, J.G., CHen, C.J., Wang, J.C., Ou, T.T., Chang, K.L., and Ko, Y.C. (1999). Identification of a new single nucleotide substitution on the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTTsou) from a Taiwanese aboriginal family with severe gout. J Rheumatol 26, 1802-1807.
Chiong, M.A., Marinaki, A., Duley, J., Bennetts, B., Ouvrier, R., and Christodoulou, J. (2006). Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy. J Inherit Metab Dis 29, 594.
Choi, Y., Koo, J.W., Ha, I.S., Yamada, Y., Goto, H., and Ogasawara, N. (1993). Partial hypoxanthine-guanine phosphoribosyl transferase deficiency in two Korean siblings - a new mutation. Pediatr Nephrol 7, 739-740.
Corrigan, A., Arenas, M., Escuredo, E., Fairbanks, L., and Marinaki, A. (2011). HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation. Nucleosides Nucleotides Nucleic Acids 30, 1260-1265.
Cossu, A., Micheli, V., Jacomelli, G., and Carcassi, A. (2002). Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency. Clin Exp Rhematol 19, 851-853.
Cossu, A., Orru, S., Jacomelli, G., Carcassi, C., Contu, L., Sestini, S., Corradi, M.R., Pompucci, G., Carcassi, A., and Micheli, V. (2006). HPRT-Sardinia: A new point mutation causing HPRT deficiency without Lesch-Nyhan disease. Biochim Biophys Acta 1762, 29-33.
Davidson, B.L., Golovoy, N., and Roessler, B.J. (1994). A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon. Hum Genet 93, 300-304.
Davidson, B.L., Palella, T.D., and Kelley, W.N. (1988a). Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland). Gene 68, 85-91.
Davidson, B.L., Pashmforoush, M., Kelley, W.N., and Palella, T.D. (1988b). Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint). Gene 63, 331-336.
Davidson, B.L., Pashmforoush, M., Kelley, W.N., and Palella, T.D. (1989a). Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRTAshville). J Biol Chem 264, 520-525.
Davidson, B.L., Tarle, S.A., Palella, T.D., and Kelley, W.N. (1989b). 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., Tarle, S.A., Van Antwerp, M., Gibbs, D.A., Watts, R.W.E., Kelley, W.N., and Palella, T.D. (1991). Identification of 17 independent mutations responsible for human hypoxanthine-guanine phsophoribosyltransferase (HPRT) deficiency. Am J Hum Genet 48, 951-958.
Dawson, P.A., Gordon, R.B., Keough, D.T., and Emmerson, B.T. (2005). Normal HPRT coding region in a male with gout due to HPRT deficiency. Mol Genet Metab 85, 78-80.
de Gemmis, P., Anesi, L., Lorenzetto, E., Gioachini, I., Fortunati, E., Zandona, G., Fanin, E., Fairbanks, L., Andrighetto, G., Parmigiani, P., et al. (2010). Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers. Mutat Res.
De Gregorio, L., Jinnah, H.A., Nyhan, W.L., Trombley, L., and O'Neill, J.P. (2005). Lesch-Nyhan disease in one member of a female monozygotic twin pair heterozygous for a mutation in HPRT. Mol Genet Metab 85, 70-77.
De Gregorio, L., Nyhan, W.L., Serafin, E., and Chamoles, N.A. (2000a). An unexpected affected female patient in a classical Lesch-Nyhan family. Mol Genet Metab 69, 263-268.
De Gregorio, L., Nyhan, W.L., Serafin, E., and Chanoles, N.A. (2000b). An unexpected affected female patient in a classical Lesch-Nyhan family. Mol Genet Metab 69, 263-268.
Dussol, B., Ceballos-Picot, I., Aral, B., Castera, V., Philip, N., and Berland, Y. (2004). 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.
Ea, H.K., Bardin, T., Jinnah, H.A., Aral, B., Liote, F., and Ceballos-Picot, I. (2009). Severe gouty arthritis and mild neurological symptoms due to a new variant of the hypoxanthine-guanine phosphoriboysltransferase (F199C). Arthritis Rheum 60, 2201-2204.
Fujimori, S., Davidson, B.L., Kelley, W.N., and Palella, T.D. (1989a). Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. J Clin Invest 83, 13-Nov.
Fujimori, S., Davidson, B.L., Kelley, W.N., and Palella, T.D. (1989b). Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale). Adv Exp Med Biol 253A, 135-138.
Fujimori, S., Hidaka, Y., Davidson, B.L., Palella, T.D., and Kelley, W.N. (1988). Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRTAnn Arbor). Hum Genet 79, 39-43.
Fujimori, S., Kamatani, N., Nishida, Y., Ogasawara, N., and Akaoka, I. (1990). Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese. Hum Genet 84, 483-486.
Fujimori, S., Tagaya, T., Kamatani, N., and Akaoka, I. (1992). A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease. Hum Genet 90, 385-388.
Fujimori, S., Tagaya, T., Yamaoka, N., Kamatani, N., and Akaoka, I. (1991). Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Japanese patients. Adv Exp Med Biol 309B, 101-104.
Fujimori, S., Tagaya, T., Yamaoka, N., Saito, H., Kamatani, N., and Akaoka, I. (1994). Direct evidence for a hot spot of germline mutation at HPRT locus. Adv Exp Med Biol 370, 679-682.
Fuscoe, J.C., and Nelsen, A.J. (1994). Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome. Hum Mol Genet 3, 199-200.
Gaigl, Z., Shin, Y.S., and Gathof, B.S. (2001). Novel splice mutation in a patient with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. J Inherit Metab Dis 24 (Supp 1), 142.
Garcia, M.G., Torres, R.J., Prior, C., and Puig, J.G. (2008). Normal HPRT coding region in complete and partial HPRT deficiency. Mol Genet Metab 94, 167-172.
Gathof, B.S., Geissler, J., Wingen, A.M., and Gresser, U. (1996). Novel initiation codon mutation met1thr identified in a patient with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum Mutat 7, 184.
Gathof, B.S., Rocchigiani, M., Micheli, V., Gaigl, Z., and Gresser, U. (1998). HPRT mutations in Italian Lesch-Nyhan patients. Adv Exp Med Biol 431, 151-153.
Gibbs, R.A., and Caskey, C.T. (1987). Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. Science 236, 303-305.
Gibbs, R.A., Nguyen, P.N., Edwards, A., Civitello, A.B., and Caskey, C.T. (1990). Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics 7, 235-244.
Gibbs, R.A., Nguyen, P.N., McBride, L.J., Koepf, S.M., and Caskey, C.T. (1989). Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci (USA) 86, 1919-1923.
Gordon, R.B. (1990). Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBrisbane). J Inherit Metab Dis 13, 692-700.
Gordon, R.B., Dawson, P.A., Sculley, D.G., Emmerson, B.T., Caskey, C.T., and Gibbs, R.A. (1991). The molecular characterisation of HPRTChermside and HPRTCoorparoo: two Lesch-Nyhan patients with reduced amounts of mRNA. Gene 108, 299-304.
Gregoric, A., Rabelink, G.M., Vokac, N.K., Varda, N.M., and Zagradisnik, B. (2005). Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation. Pediatr Nephrol 20, 1346-1348.
Gucev, Z., Koceva, S., Marinaki, A., Fairbanks, L., Kirovski, I., and Tasic, V. (2010). Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype. Clin Genet 78, 296-297.
Hidalgo-Laos, R.I., Kedar, A., Williams, C.A., and Neiberger, R.E. (1997). A new point mutation in a hypoxanthine phosphoribosyltransferase-deficient patient. Pediatr Nephrol 11, 645-648.
Hikita, M., Hosoya, T., Ichida, K., Okabe, H., Saji, M., Ohno, I., Kuriyama, S., Tomonari, H., Hayashi, F., Onouchi, K., et al. (1998). Partial deficiency of hypoxanthine-guanine-phosphoribosyltransferase manifesting as acute renal damage. Int Med 37, 945-949.
Hladnik, U., Nyhan, W.L., and Bertelli, M. (2008). Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Arch Neurol 65, 1240-1243.
Hou, J.W. (2006). Atlantoaxial suluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome. Acta Paediatr 95, 1500-1504.
Hunter, T.C., Melancon, S.B., Dallaire, L., Taft, S., Skopek, T.R., Albertini, R.J., and O'Neill, J.P. (1996). Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures. Somat Cell Mol Genet 22, 145-150.
Igarishi, T., Minami, M., and Nishida, Y. (1989). Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutation in five unrelated Japanese patients. Acta Paediatr Jpn 31, 303-313.
Inokuchi, T., Moriwaki, Y., Takahashi, S., Tsutsumi, Z., Ka, T., Yamamoto, A., Cheng, J., Hashimoto-Tamaoki, T., Hada, T., and Yamamoto, T. (2004). Identification of a new point mutation in hypoxanthine phosphoribosyl transferase responsible for hyperuricemia in a female patient. Metabolism 53, 1500-1502.
Ishida, Y., Ishimaru, A., Tauchi, H., Yamaguchi, A., Yokoyama, M., Hiroi, K., Wakamatsu, N., and Yamada, Y. (2008). Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy. Eur J Pediatr 167, 957-959.
Jankovic, J., Caskey, C.T., Stout, J.T., and Butler, I.J. (1988). Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. Ann Neurol 23, 466-469.
Jinnah, H.A., Ceballos-Picot, I., Torres, R.J., Visser, J.E., Schretlen, D., Verdu, A., Larovere, L.E., Chen, C.J., Cossu, A., Wu, C.H., et al. (2010). Attenuated variants of Lesch-Nyhan disease. in progress.
Jinnah, H.A., DeGregorio, L., Harris, J.C., Nyhan, W.L., and O'Neill, J.P. (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.
Jinnah, H.A., Visser, J.E., Harris, J.C., Verdu, A., Larovere, L., Ceballos-Picot, I., Neychev, V., Torres, R.J., Dulac, O., Desguerre, I., et al. (2006). Delineation of the motor disorder of Lesch-Nyhan disease. Brain 129, 1201-1217.
Jurecka, A., Popowska, E., Tylki-Szymanska, A., Kubalska, J., Ciara, E., Krumina, Z., Sykut-Cegielska, J., and Pronicka, E. (2008). Hypoxanthine-guanine phosphoribosylotransferase deficiency-The spectrum of Polish mutations. J Inherit Metab Dis, 136.
Kim, K.J., Yamada, Y., Suzumori, K., Choi, Y., Yang, S.W., Cheong, H.I., Hwang, Y.S., Goto, H., and Ogasawara, N. (1997). Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. J Korean Med Sci 12, 332-339.
Kim, S.J., Sohn, Y.B., Park, S.W., Jin, D.K., and Paik, K.H. (2009). Chronic peritoneal dialysis in a 4-year-old boy with Lesch-Nyhan disease. Pediatr Nephrol 24, 1089-1090.
Larovere, L.E., O'Neill, J.P., Randall, M., Fairbanks, L.D., Guelbert, N., Czornyi, L., and de Kremer, R.D. (2007). Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients. Nucleosides Nucleotides Nucleic Acids 26, 255-258.
Larovere, L.E., Romero, N., Fairbanks, L.D., Conde, C., Guelbert, N., Rosa, A.L., and Dodelson de Kremer, R. (2004). A novel missense mutation, c.584A>C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant. Mol Genet Med 81, 352-354.
Lee, W.J., Lee, H.M., Chi, C.S., Yang, M.T., Lin, H.Y., and Lin, W.H. (1995). Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family. Chung Hua I Hsueh Tsa Chih (Taipei), 359-366.
Lightfoot, T., Lewkonia, R.M., and Snyder, F.F. (1994). Sequence, expression, and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities. Hum Mol Genet 3, 1377-1381.
Mak, B.S., Shi, C.S., Tsai, C.R., Lee, W.J., and Lin, H.Y. (2000). New mutations of the HPRT gene in Lesch-Nyhan syndrome. Pediatr Neurol 23, 332-335.
Marcus, S., Christensen, E., and Malm, G. (1993a). Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome. Hum Mutat 2, 473-477.
Marcus, S., Hellgren, D., Lambert, B., Fallstrom, S.P., and Wahlstrom, J. (1993b). Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch-Nyhan syndrome. Hum Genet 90, 477-482.
Marcus, S., Steen, A.M., Andersson, B., Lambert, B., Kristoffersson, U., and 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.
Micheli, V., Gathof, B.S., Rocchigiani, M., Jacomelli, G., Sestini, S., Peruzi, L., Notarantonio, L., Cerboni, B., Hayek, G., and Pompucci, G. (2002). Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Biochim Biophys Acta 62102.
Mizunuma, M., Fujimori, S., Ogino, H., Ueno, T., Inoue, H., and Kamatani, N. (2001). A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. Hum Mutat 18, 435-443.
Monnat, R.J., Jr., Chiaverotti, T.A., Hackmann, A.F., and Maresh, G.A. (1992). Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications. Genomics 13, 788-796.
Nguyen, K.V., Naviaux, R.K., Paik, K.K., and Nyhan, W.L. (2011). Novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids 30, 440-445.
Nguyen, K.V., Naviaux, R.K., Paik, K.K., and Nyhan, W.L. (2012). Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. Mol Genet Metab 106, 498-501.
O'Neill, J.P. (2004). Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes. Genet Testing 8, 51-64.
O'Neill, J.P., and Finette, B.A. (1998). Transition mutations at CpG dinucleotides are the most frequent in vivo spontaneous single-base substitution mutation in the human HPRT gene. Environ Molec Mutagen 32, 188-191.
O'Neill, J.P., Trombley, L., Gundel, R.M., Hunter, T., Nicklas, J.A., Ferreira, M.L., Bugallo, M.J., Farias, A.C., Lohr, A., Diamantopoulos, M., et al. (1999). Identification of a new Lesch-Nyhan syndrome mutation (HPRTBrasil) an analysis of potentially heterozygous females. Arq Neuropsiquiatr 57, 907-911.
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Popowska, E., Sulek, A., Kubalska, J., Pronicka, E., Jezewska, M.M., Trembacz, H., Goryluk-Kozakiewicz, B., and Krajewska-Walasek, M. (1998). Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes. J Appl Genet 39, 103-111.
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Willers, I., Bolz, H., Wehnert, M., and Gal, A. (1999). Eighteen novel mutation in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency. J Inherit Metab Dis 22, 845-846.
Wilson, J.M., and Kelley, W.N. (1983). Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome. J Clin Invest 71, 1331-1335.
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