Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia

Kadakol, 2001, Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus, J Med Genet, 38, 244, 10.1136/jmg.38.4.244 Costa, 2006, Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler–Najjar syndromes, Blood Cells Mol Dis, 36, 77, 10.1016/j.bcmd.2005.10.006 Ritter, 1993, A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler–Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase, J Biol Chem, 268, 23573, 10.1016/S0021-9258(19)49501-X Ewing, 1998, Base-calling of automated sequencer traces using phred. II. Error probabilities, Genome Res, 8, 186-4, 10.1101/gr.8.3.175 Costa, 2006, Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes, Blood Cells Mol Dis, 36, 91, 10.1016/j.bcmd.2005.09.002 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 Arias, 1969, Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity, Am J Med, 47, 395, 10.1016/0002-9343(69)90224-1 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 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 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 Minucci, 2009, A prolonged neonatal jaundice associated with a rare G6PD mutation, Pediatr Blood Cancer, 53, 475, 10.1002/pbc.22046