A Novel Intronic Mutation Results in the Use of a Cryptic Splice Acceptor Site within the Coding Region of UGT1A1, Causing Crigler-Najjar Syndrome Type 1

Crigler, 1952, Congenital familial non-hemolytic jaundice with kernicterus, Pediatrics, 10, 169 Roy Chowdhury, 2001, Hereditary jaundice and disorders of bilirubin metabolism, 3063 Van der Veere, 1996, Current therapy for Crigler-Najjar syndrome type 1: Report of a world registry, Hepatology, 24, 311, 10.1002/hep.510240205 Arias, 1969, Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronosyl transferase deficiency: Clinical, biochemical, pharmacologic, and genetic evidence for heterogeneity, Am J Med, 47, 395, 10.1016/0002-9343(69)90224-1 Bosma, 1992, Sequence of exons and flanking regions of human bilirubin UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I, Hepatology, 15, 941, 10.1002/hep.1840150531 Bosma, 1992, Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I, FASEB J, 6, 2859, 10.1096/fasebj.6.10.1634050 Labrune, 1994, Genetic heterogeneity of Crigler-Najjar syndrome type I: A study of 14 cases, Hum Genet, 94, 693, 10.1007/BF00206965 Seppen, 1994, Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase, J Clin Invest, 94, 2385, 10.1172/JCI117604 Bosma, 1993, A mutation in bilirubin uridine 5′-diphosphate-glucuronosyltransferase isoform-1 causing Crigler-Najjar syndrome type-II, Gastroenterology, 105, 216, 10.1016/0016-5085(93)90029-C Erps, 1994, Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro, J Clin Invest, 93, 564, 10.1172/JCI117008 Moghrabi, 1993, Cosegragation of intragenic markers with a novel mutation that cause Crigler-Najjar syndrome type I: Implication in carrier detection and prenatal diagnosis, Am J Hum Genet, 53, 722 Rosatelli, 1997, Molecular analysis of patients with Sardinian descent with Crigler-Najjar syndrome type 1, J Med Genet, 34, 122, 10.1136/jmg.34.2.122 Koiwai, 1996, Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait, Hum Mol Genet, 5, 645, 10.1093/hmg/5.5.645 Kadakol, 2000, Genetic lesions of bilirubin uridinediphosphoglucuronate glucuronosyltransferase causing Crigler-Najjar and Gilbert's syndromes: Correlation of genotype to phenotype, Hum Mutat, 16, 297, 10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z Gantla, 1998, Splice-site mutations: A novel genetic mechanism for Crigler-Najjar syndrome type 1, Am J Hum Genet, 62, 585, 10.1086/301756 Gilbert, 1901, La cholemae simple familiale, Semin Med, 21, 241 Bosma, 1995, The genetic basis of the reduced expression of the bilirubin-UDP-glucuronosyltransferase-1 in Gilbert's syndrome, N Engl J Med, 333, 1171, 10.1056/NEJM199511023331802 Kadakol, 2001, Interaction of coding region mutations and the gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinemia and may lead to neonatal kernicterus, J Med Genet, 38, 244, 10.1136/jmg.38.4.244 Koiwai, 1995, Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase, Hum Mol Genet, 4, 1183, 10.1093/hmg/4.7.1183 Maruo, 1998, Gilbert's syndrome caused by homozygous missense mutation (Tyr486Asp) of bilirubin-UDP glucuronosyl transferase, J Pediatr, 132, 1045, 10.1016/S0022-3476(98)70408-1 Aono, 1995, Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome, Lancet, 345, 958, 10.1016/S0140-6736(95)90702-5 Roy Chowdhury, 1981, Bilirubin monoglucuronide and diglucuronide formation by human liver in vitro assay by high pressure liquid chromatography, Hepatology, 1, 622, 10.1002/hep.1840010610 Sanger, 1977, DNA sequencing with chain-terminating inhibitors, Proc Natl Acad Sci USA, 74, 5463, 10.1073/pnas.74.12.5463 Gantla, 1995, Direct sequencing of P1 bacteriophage clones using SequiThermTM DNA polymerase, Epicentre Forum, 2, 3 Ritter, 1992, Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type1 patient, J Clin Invest, 90, 150, 10.1172/JCI115829 Sinaasappel, 1991, The diffenential diagnosis of Crigler-Najjar disease, types 1 and 2, by pile pigment analysis, Gastroenterology, 100, 783, 10.1016/0016-5085(91)80026-6 Ghosh, 2000, Liver-directed gene therapy: Promises, problems and prospects at the turn of the century, J Hepatology, 32, 238, 10.1016/S0168-8278(00)80429-8 Sauter, 2001, Long term correction of bilirubin glucuronidation in the bilirubin-UDP-glucuronosyltransferase-deficient Gunn rat by in vivo gene therapy with recombinant SV40, Gastroenterology, 119, 1348, 10.1053/gast.2000.19577 Kren, 1999, Correction of UDP-glucuronosyltransferase gene defect in Gunn rat model of Crigler-Najjar syndrome type I with a chimeric oligonucleotide, Proc Natl Acad Sci USA, 96, 10349, 10.1073/pnas.96.18.10349