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.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Frameshift Mutation
/
Glucuronosyltransferase
/
Crigler-Najjar Syndrome
/
Diagnosis
/
Genetics
Type of study:
Diagnostic study
/
Etiology study
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
English
Journal:
Chinese Medical Journal
Year:
2011
Type:
Article
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