The table below lists the literature sources mentioned in the mutation database tables (as can be selected from the menu on the left).
| References |
| 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. |
| Ogasawara, N., Stout, J.T., Goto, H., Sonta, S.I., Matsumoto, A., and Caskey, C.T. (1989). Molecular anaylsis of a female Lesch-Nyhan patient. J Clin Invest 4, 1024-1027. |
| Pela, I., Donati, M.A., Procopio, E., and Fiorini, P. (2008). Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. Pediatr Nephrol 23, 155-158. |
| 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. |
| Puig, J.G., Torres, R.J., Mateos, F.A., Ramos, T.H., Arcas, J.M., Buno, A.S., and O'Neill, P. (2001). The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: Clinical experience based on 22 patients from 18 Spanish families. Medicine 80, 102-112. |
| Renwick, P.J., Birley, A.J., McKeown, C.M., and Hulten, M. (1995). Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome. Clin Genet 48, 80-84. |
| Rinat, C., Zoref-Shani, E., Ben-Neriah, Z., Bromberg, Y., Becker-Cohen, R., Feinstein, S., Sperling, O., and Frishberg, Y. (2005). Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease. Mol Genet Metab in press. |
| Roche, A., Perez-Duenas, B., Camacho, J.A., Torres, R.J., Puig, J.G., Garcia-Cazorla, A., and Artuch, R. (2009). Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome. Am J Kidney Dis 53, 677-680. |
| Sapag, A., Frischling, E., and Laborde, H. (2012). Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation. Joint Bone Spine. |
| Sarafoglou, K., Grosse-Redlinger, K., Boys, C.J., Charnas, L., Otten, N., Broock, R., and Nyhan, W.L. (2010). Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. Arch Neurol 67, 761-764. |
| Sculley, D.G., Dawson, P.A., Beacham, I.R., Emmerson, B.T., and 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., and Gordon, R.B. (1992). A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet 90, 195-207. |
| Sebesta, I., Stibarkova, B., Dvorakova, L., Hrebicek, M., Minks, J., Stolnaja, L., Vernerova, Z., and Rychlik, I. (2008). Unusual presentation of Kelley-Seegmiller syndrome. Nucleosides Nucleotides Nucleic Acids 27, 648-655. |
| Sege-Peterson, K., Chambers, J., Page, T., Jones, O.W., and Nyhan, W.L. (1992). Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Hum Mol Genet 1, 427-432. |
| Serrano, M., Perez-Duenas, B., Ormazabal, A., Artuch, R., Campistol, J., Torres, R.J., and Garcia-Cazorla, A. (2008). Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks. Mov Disord 23, 1297-1300. |
| Sharma, S., Jimenez, R.T., Aneja, S., Garcia, M.G., and Sethi, G.R. (2011). Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene. Indian J Pediatr. |
| Singh, S., Willers, I., Held, K., and Goedde, W. (1989). Lesch-Nyhan syndrome and HPRT variants: study of heterogeneity at the gene level. Adv Exp Med Biol 253A, 145-150. |
| Skopek, T.R., Recio, L., Simpson, D., Dellaire, L., Melancon, S.B., Ogier, H., O'Neill, J.P., Falta, M.T., Nicklas, J.A., and Albertini, R.J. (1990). Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures. Hum Genet 85, 111-116. |
| Srivastava, T., O'Neill, J.P., Dasouki, M., and Simckes, A.M. (2002). Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene. Am J Med Genet 108, 219-222. |
| Taniguchi, A., Yamada, Y., Hakoda, M., Sekita, C., Kawamoto, M., Kaneko, H., and Yamanaka, H. (2011). Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome. Nucleosides Nucleotides Nucleic Acids 30, 1266-1271. |
| Tarle, S.A., Davidson, B.L., Wu, V.C., Zidar, F.J., Seegmiller, J.E., Kelley, W.N., and Palella, T.D. (1991). Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. Genomics 10, 499-501. |
| Tohyama, J., Nanba, E., and Ohno, K. (1994). Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT- deficient mouse cell line. Hum Genet 93, 175-181. |
| Torres, R.J., Garcia, M.G., and Puig, J.G. (2010). Partial HPRT deficiency phenotype and incomplete splicing mutation. Nucleosides Nucleotides Nucleic Acids 29, 295-300. |
| Torres, R.J., Mateos, F.A., Molano, J., Gathoff, B.S., O'Neill, J.P., Gundel, R.M., Trombley, L., and Puig, J.G. (2000). Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families. Hum Mutat 15, 383. |
| Tvrdik, T., Marcus, S., Hou, S.M., Falt, S., Noori, P., Podlutskaja, N., Hanefeld, F., Stromme, P., and Lambert, B. (1998). Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine-phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome. Hum Genet 103, 311-318. |
| Wehnert, M., and Herrman, F.H. (1990). Characterization of three new deletions at the 5' end of the HPRT structural gene. J Inherit Metab Dis 13, 178-183. |
| 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. |
| Wilson, J.M., and Kish, S.J. (1996). The vesicular monoamine transporter, in contrast to the dopamine transporter, is not altered by chronic cocaine self-administration in the rat. J Neurosci 16, 3507-3510. |
| Wilson, J.M., Stout, J.T., Palella, T.D., Davidson, B.L., Kelley, W.N., and Caskey, C.T. (1986). A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. J Clin Invest 77, 188-195. |
| Wilson, J.M., Young, A.B., and Kelley, W.N. (1983). Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes. N Engl J Med 309, 900-910. |
| Wong, H., Feber, J., Chakraborty, P., Drukker, A., and Filler, G. (2008). Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure. Pediatr Nephrol 23, 317-321. |
| Wu, C.H., Lai, H.M., Yang, M.C., Liaw, C.C., Chang, S.J., Ko, Y.C., and Chen, C.J. (2007). Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan. J Rheumatol 34, 794-797. |
| Yamada, Y., Goto, H., and Ogasawara, N. (1991). Identification of two independent Japanese mutant HPRT genes using the PCR technique. Adv Exp Med Biol 309B, 121-124. |
| Yamada, Y., Goto, H., Suzumori, K., Adachi, R., and Ogasawara, N. (1992). Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet 90, 379-384. |
| Yamada, Y., Goto, H., Tamura, S., and Ogasawara, N. (1993). Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio). Jpn J Hum Genet 38, 413-419. |
| Yamada, Y., Goto, H., Yukawa, T., Akazawa, H., and Ogasawara, N. (1994). Molecular mechanisms of the second female Lesch-Nyhan patient. Adv Exp Med Biol 370, 337-340. |
| Yamada, Y., Nomura, N., Yamada, K., and Wakamatsu, N. (2007). Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations. Mol Genet Metab 90, 70-76. |
| Yamada, Y., Nomura, N., Yamada, K., Wakamatsu, N., Kaneko, K., and Fujimori, S. (2008). Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations. Nucleosides Nucleotides Nucleic Acids 27, 570-574. |
| Yamada, Y., Suzumori, K., Tanemura, M., Goto, H., and Ogasawara, N. (1996). Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis. Clin Genet 50, 164-167. |
| Yamada, Y., Wakamatsu, N., Taniguchi, A., Kaneko, K., and Fujimori, S. (2011a). Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population. Nucleosides Nucleotides Nucleic Acids 30, 1248-1255. |
| Yamada, Y., Yamada, K., Nomura, N., Yamano, A., Kimura, R., Naiki, M., Fukushi, D., Wakamatsu, N., Taniguchi, A., Yamaoka, N., et al. (2011b). Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations. Nucleosides Nucleotides Nucleic Acids 30, 1272-1275. |
| Yamada, Y., Yamada, K., Sonta, S., Wakamatsu, N., and Ogasawara, N. (2004). Mutations in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT-deficient families. Nucleosides, Nucleotides & Nucleic Acids 23, 1169-1172. |
| Yang, T.P., Patel, P.I., Chinault, A.C., Stout, J.T., Jackson, L.G., Hildebrand, B.M., and Caskey, C.T. (1984). Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature 310, 412-414. |
| Yang, T.P., Stout, J.T., Konecki, D.S., Patel, P.I., Alford, R.L., and Caskey, C.T. (1988). Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement. Somat Cell Mol Genet 14, 293-303. |
| Zamora, A., Escarcega, R.O., Vazquez, R., and O'Neill, J.P. (2007). HPRT deficiency in a two-month-old child presenting acute renal failure and gout with a new deletion of two bases in exon 3 of the HPRT gene. Arch Med Res 38, 460-462. |
| Zoref-Shani, E., Bromberg, Y., Hirsch, J., Feinstein, S., Frishberg, Y., and Sperling, O. (2003). A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome. Mol Genet Metab 78, 158-161. |
| Zoref-Shani, E., Bromberg, Y., Hirsch, J., Feinstein, S., Frishberg, Y., and Sperling, O. (2004). Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem. Nucleosides Nucleotides Nucleic Acids 23, 1165-1168. |