Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler-Najjar type I syndrome

Haematologica

Volumn 93, Issue 10, 2008, Pages 1590-1591

  Petit, François M ^a   Hébert, Marylise ^a   Gajdos, Vincent ^b   Capel, Liliane ^a   M'Rad, Ridha ^c   Labrune, Philippe ^b  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

^b Clinique de Genetique Medicale   (France)

^c CHARLES NICOLLE HOSPITAL   (Tunisia)

Author keywords

Crigler Najjar syndrome type I; Polymerase chain reaction; Uridine diphosphate glucuronosyltransferase 1A1 UGT1A1

Indexed keywords

BLOOD SAMPLING; CASE REPORT; CONSANGUINITY; CRIGLER NAJJAR SYNDROME; DNA EXTRACTION; EXON; GENE; GENE DELETION; GENE MUTATION; HUMAN; HYPERBILIRUBINEMIA; LETTER; MALE; POLYMERASE CHAIN REACTION; UGT1A1 GENE;

BASE SEQUENCE; CRIGLER-NAJJAR SYNDROME; EXONS; GENE DELETION; GENETIC MARKERS; GLUCURONOSYLTRANSFERASE; HUMANS; INFANT, NEWBORN; MALE; PROMOTER REGIONS, GENETIC;

EID: 54349106911     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.13295     Document Type: Letter

References (7)

1. Bosma PJ, Chowdhury NR, Goldhoorn BG, Hofker MH, Oude Elferink RP, Jansen PL, et al. Sequence of exons and the 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 1992;15:941-7.
2. Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat 2003;22:229-44.
3. Chuzhanova N, Abeysinghe SS, Krawczak M, Cooper DN. Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum Mutat 2003;22:245-51.
4. Seppen J, Bosma PJ, Goldhoorn BG, Bakker CT, Chowdhury JR, Chowdhury NR, et al. Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase. J Clin Invest 1994;94:2385-91.
5. Le Bihan-Levaufre B, Francoual J, Labrune P, Chalas J, Capel L, Lindenbaum A. [Refinement and role of the diagnosis of Gilbert disease with molecular biology] Ann Biol Clin (Paris) 2001;59:61-6.
6. Labrune P, Myara A, Hadchouel M, Ronchi F, Bernard O, Trivin F, et al. Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases. Hum Genet 1994;94:693-7.
7. Férec C, Casals T, Chuzhanova N, Macek M Jr, Bienvenu T, Holubova A, et al. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 2006;14:567-76.