Genetic analysis of a child affected with Crigler-Najjar syndrome type II.
- VernacularTitle:一例Crigler-Najjar综合征Ⅱ型患儿的基因突变分析
- Author:
Yunqin WU
1
;
Guinan LI
;
Yong ZHOU
;
Jun LI
;
Yueyuan HU
Author Information
- Publication Type:Case Reports
- MeSH: Crigler-Najjar Syndrome; genetics; Glucuronosyltransferase; genetics; Humans; Infant; Male; Mutation; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2016;33(3):328-331
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutation of the UGT1A1 gene in a child affected with Crigler-Najjar syndrome type II.
METHODSBlood samples were collected from the patient and his parents for the extraction of genomic DNA. Potential mutation of the UGT1A1 gene was detected with polymerase chain reaction (PCR) and direct sequencing. The child was followed up until the age of 3 years and 6 months.
RESULTSThe patient showed persistent unconjugated hyperbilirubinemia. Sequencing of the UGT1A1 gene has detected a rare heterozygous c.610 A>G (p.Met204Val) mutation in the exon 1, in addition with a heterozygous c.1091 C>T (p.Pro364Leu) mutation in exon 4. The two mutations were inherited from his father and mother, respectively. The patient was diagnosed with Crigler-Najjar syndrome type II and received oral phenobarbital treatment.
CONCLUSIONThe compound UGT1A1 gene mutation probably accounts for the disease in the patient manifesting persistent mild unconjugated hyperbilirubinemia. Genetic counseling and prenatal diagnosis should be provided for his family.
