Gilbert and Crigler Najjar syndromes: An update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database

Blood Cells, Molecules, and Diseases - Tập 50 - Trang 273-280 - 2013
Giulia Canu1, Angelo Minucci1, Cecilia Zuppi1, Ettore Capoluongo1
1Laboratory of Clinical Molecular Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Italy

Tài liệu tham khảo

Petit, 2006, Crigler–Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene, Clin. Genet., 69, 525, 10.1111/j.1399-0004.2006.00616.x

Seppen, 1996, A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler–Najjar type II, FEBS Lett., 390, 294, 10.1016/0014-5793(96)00677-1

Servedio, 2005, Spectrum of UGT1A1 mutations in Crigler–Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype–phenotype correlation, Hum. Mutat., 25, 325, 10.1002/humu.9322

Kadakol, 2000, Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltranferase (UGT1A1) causing Crigler–Najjar and Gilbert 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

Yea, 2008, Genetic variations and haplotypes of UDP-glucuronosyltransferase 1A locus in a Korean population, Ther. Drug Monit., 30, 23, 10.1097/FTD.0b013e3181633824

Sutomo, 2002, Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome, Pediatr. Int., 44, 427, 10.1046/j.1442-200X.2002.t01-1-01577.x

Sai, 2004, UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer, Clin. Pharmacol. Ther., 75, 501, 10.1016/j.clpt.2004.01.010

Maruo, 2008, Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler–Najjar syndrome type I, J. Pediatr. Gastroenterol. Nutr., 46, 308, 10.1097/MPG.0b013e3181638c8b

Farheen, 2006, Gilbert's syndrome: high frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene, World J. Gastroenterol., 12, 2269, 10.3748/wjg.v12.i14.2269

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

Nair, 2012, Crigler–Najjar syndrome type 2: novel UGT1A1 mutation, Indian J. Hum. Genet., 18, 233, 10.4103/0971-6866.100776

Sneitz, 2010, Crigler–Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype–phenotype correlation, and functional analysis of 10 missense mutants, Hum. Mutat., 31, 52, 10.1002/humu.21133

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

Iolascon, 2000, Crigler–Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene, J. Med. Genet., 9, 712, 10.1136/jmg.37.9.712

Minucci, 2012, Phenotype heterogeneity of hyperbilirubinemia condition: the lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler–Najjar syndrome type II in an Italian patient, Blood Cells Mol. Dis., 49, 118, 10.1016/j.bcmd.2012.05.004

Koiwai, 1995, Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase, Hum. Mol. Genet., 7, 1183, 10.1093/hmg/4.7.1183

Ciotti, 1995, Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler–Najjar type I patient, J. Biol. Chem., 270, 3284, 10.1074/jbc.270.7.3284

A. Minucci, et al. (2009) data not published.

Labrune, 1994, Genetic heterogeneity of Crigler–Najjar syndrome type I: a study of 14 cases, Hum. Genet., 94, 693, 10.1007/BF00206965

Ciotti, 1998, A coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler–Najjar type I disease, Biochim. Biophys. Acta, 1407, 40, 10.1016/S0925-4439(98)00030-1

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

Ciotti, 1999, Delayed response to phenobarbital treatment of a Crigler–Najjar type II patient with partially inactivating missense mutations in the bilirubin UDP glucuronosyltransferase gene, J. Pediatr. Gastroenterol. Nutr., 28, 210, 10.1097/00005176-199902000-00024

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

Moghrabi, 1993, Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler–Najjar syndrome type 2, Genomics, 18, 171, 10.1006/geno.1993.1451

Aggarwal, 2010, Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler–Najjar syndrome, Pediatr. Blood Cancer, 54, 627, 10.1002/pbc.22313

Takeuchi, 2004, Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler–Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects, J. Gastroenterol. Hepatol., 19, 1023, 10.1111/j.1440-1746.2004.03370.x

D'Apolito, 2007, Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia, Haematologica, 92, 133, 10.3324/haematol.10585

Ciotti, 1997, Genetic defects at the UGT1 locus associated with Crigler–Najjar type I disease, including a prenatal diagnosis, Am. J. Med. Genet., 68, 173, 10.1002/(SICI)1096-8628(19970120)68:2<173::AID-AJMG10>3.0.CO;2-R

Passuello, 2009, Pregnancy outcome in maternal Crigler–Najjar syndrome type II: a case report and systematic review of the literature, Fetal Diagn. Ther., 26, 121, 10.1159/000238122

Labrune, 2002, Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler–Najjar type II syndrome, Hum. Mutat., 20, 399, 10.1002/humu.10122

Zhou, 2009, UGT1A1 haplotype mutation among Asians in Singapore, Neonatology, 96, 150, 10.1159/000209851

Maruo, 2003, A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler–Najjar syndrome type 1, J. Pediatr. Gastroenterol. Nutr., 37, 627, 10.1097/00005176-200311000-00024

Chalasani, 1997, Kernicterus in an adult who is heterozygous for Crigler–Najjar syndrome and homozygous for Gilbert-type genetic defect, Gastroenterology, 112, 2099, 10.1053/gast.1997.v112.pm9178703

Liu, 2012, Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler–Najjar syndrome patient, Mol. Med. Rep., 6, 667, 10.3892/mmr.2012.950

Yusoff, 2006, Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population, Biol. Neonate, 89, 171, 10.1159/000088844

Nong, 2005, Severe hyperbilirubinaemia in a Chinese girl with type I Crigler–Najjar syndrome: first case ever reported in Mainland China, J. Paediatr. Child Health, 41, 300, 10.1111/j.1440-1754.2005.00616.x

Aono, 1994, A new type of defect in the gene for bilirubin uridine 5′-diphosphate-glucuronosyltransferase in a patient with Crigler–Najjar syndrome type I, Pediatr. Res., 35, 629, 10.1203/00006450-199406000-00002

Huang, 2001, A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler–Najjar syndrome type II, Pharmacogenetics, 11, 639, 10.1097/00008571-200110000-00011

Petit, 2008, Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler–Najjar type I syndrome, Haematologica, 93, 1590, 10.3324/haematol.13295

Rosatelli, 1997, Molecular analysis of patients of Sardinian descent with Crigler–Najjar syndrome type I, J. Med. Genet., 34, 122, 10.1136/jmg.34.2.122

Bosma, 1995, The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome, N. Engl. J. Med., 333, 1171, 10.1056/NEJM199511023331802

Iolascon, 1999, (TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome, Haematologica, 84, 106

Beutler, 1998, Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?, Proc. Natl. Acad. Sci. U. S. A., 95, 8170, 10.1073/pnas.95.14.8170

Sugatani, 2002, Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia, Biochem. Biophys. Res. Commun., 292, 492, 10.1006/bbrc.2002.6683