Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes

• Tipo: Artigo em Revista Científica Internacional
• Data: 2006

Autores

Costa, E (Autor) FFUP; Vieira, E (Autor) Outra; Martins, M (Autor) Outra; Saraiva, J (Autor) Outra; Cancela, E (Autor) Outra; Costa, M (Autor) Outra; Bauerle, R (Autor) Outra; Freitas, T (Autor) Outra; Carvalho, JR (Autor) Outra; Santos Silva, E (Autor) Outra; Barbot, J (Autor) Outra; dos Santos, R (Autor) Outra

Revista

Título: Blood Cells, Molecules, and Diseases

Vol. 36

Páginas: 91-97

ISSN: 1079-9796

Editora: Elsevier

Indexação

ISI Web of Knowledge - 26 Citações

Scopus - 34 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: P-004-P8P

DOI: 10.1016/j.bcmd.2005.09.002

Abstract (EN): 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, I 10 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 7