Publication
Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes
| dc.contributor.author | Costa, Elísio | |
| dc.contributor.author | Vieira, Emília | |
| dc.contributor.author | Martins, Marcia | |
| dc.contributor.author | Saraiva, Jorge A. | |
| dc.contributor.author | Cancela, Eugénia | |
| dc.contributor.author | Costa, Miguel Rocha | |
| dc.contributor.author | Bauerle, Roswitha | |
| dc.contributor.author | Freitas, Teresa R. | |
| dc.contributor.author | Carvalho, João | |
| dc.contributor.author | Santos-Silva, Ermelinda | |
| dc.contributor.author | Barbot, José | |
| dc.contributor.author | Santos, Rosário | |
| dc.date.accessioned | 2008-02-18T16:16:31Z | |
| dc.date.available | 2008-02-18T16:16:31Z | |
| dc.date.issued | 2006 | |
| dc.description.abstract | We describe the molecular study in a cohort of 120 Portuguese patients with the clinical diagnosis of Gilbert syndrome and in one with the diagnosis of Crigler–Najjar syndrome type II, as well as a prenatal diagnosis of Crigler–Najjar syndrome type I. Among the 120 unrelated patients with Gilbert syndrome, 110 were homozygous for the [TA]7 allele ([TA]7/[TA]7), and one patient was a compound heterozygote for two different insertions ([TA]7/[TA]8). The remaining 9 patients were heterozygous for the TA insertion ([TA]6/[TA]7). Additional studies in these 9 patients revealed heterozygosity for the c.674T>G, c.488_491dupACCT and c.923G>A mutations, in 1, 1 and 4 patients, respectively. The patient with Crigler–Najjar syndrome type II was a compound heterozygote for [TA]7 and the c.923G>A mutation. The undocumented polymorphisms c.-1126C>T and c.997-82T>C were also detected in the course of this study. Prenatal diagnosis in a family with a boy previously diagnosed as Crigler–Najjar syndrome type I and homozygosity for the c.923G>A mutation revealed that the fetus was unaffected. Homozygosity for the [TA] insertion was found to be the most frequent cause of GS in our population. Identification of further mutations in the UGT1A1 gene was also seen to contribute significantly towards diagnosis. | en |
| dc.identifier.citation | Costa, Elísio; Vieira, Emília; Martins, Marcia; Saraiva, Jorge; Cancela, Eugénia; Costa, Miguel; Bauerle, Roswitha; Freitas, Teresa; Carvalho, João; Santos-Silva, Ermelinda; Barbot, José; Santos, Rosário (2006). Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes. Blood Cells, Molecules, and Diseases. ISSN 1079-9796. 36:1, p. 91-97 | en |
| dc.identifier.doi | 10.1016/j.bcmd.2005.09.002 | |
| dc.identifier.issn | 1079-9796 | |
| dc.identifier.uri | http://hdl.handle.net/10198/491 | |
| dc.language.iso | eng | en |
| dc.publisher | Elsevier | en |
| dc.subject | Gilbert syndrome | en |
| dc.subject | UGT1A1 | en |
| dc.subject | Crigler–Najjar syndrome | en |
| dc.subject | Hyperbilirubinemia | en |
| dc.subject | Mutations | en |
| dc.title | Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes | en |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.rights | openAccess | |
| rcaap.type | article | en |