A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 4109-4111, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-273914
ABSTRACT
We present a case of severe persisting unconjugated hyperbilirubinemia in a Uigur infant boy, eventually diagnosed as Crigler-Najjar syndrome type I. DNA analysis of his blood of the UGT1A1 gene sequence demonstrated that he was homozygous for an insertion mutation causing a change of the coding exons with a frame-shift, resulting in the substitution of 27 abnormal amino acid residues in his hepatic bilirubin uridine diphosphoglucuronyl transferase enzyme. Both of his parents were heterozygous for the same mutation. A novel frame-shifting mutation of the UGT1A1 gene was found, confirming the diagnosis of Crigler-Najjar syndrome type I for this patient.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Mutação da Fase de Leitura
/
Glucuronosiltransferase
/
Síndrome de Crigler-Najjar
/
Diagnóstico
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
Limite:
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Inglês
Revista:
Chinese Medical Journal
Ano de publicação:
2011
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS