Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in             an unusual Crigler-Najjar syndrome patient.
Crigler-Najjar (CN) syndrome is a rare autosomal recessive inherited disorder             characterized by non-hemolytic, unconjugated hyperbilirubinemia. The levels of             serum bilirubin and the response to phenobarbital treatment have been used to             classify CN syndrome into two types: CN I and II. Mutations of the UGT1A1 gene             have been found to be responsible for cases of CN syndrome. In the present study,             the clinical features of a boy with an unusual type of CN syndrome were analysed.             A DNA sample was obtained from the patient, and the promoter region, the exons             and flanking intronic sequences of the UGT1A1 gene were analysed using the polymerase             chain reaction and sequencing. The case was similar to CN type I in clinical features,             but the therapeutic efficacy in the patient was superior to that typically observed             in CN type II disease. Sequencing revealed compound heterozygous mutations, c.211G>A             (p.G71R), c.1470C>T (p.D490D) and a normal homozygous A[TA]6TAA. No similar             case has been reported worldwide and, considering the specific clinical features             and therapeutic efficacy, a distinct type of CN was suspected. The phenotype of             this unusual CN syndrome patient may be associated with the specific genotype.
Department of Pediatrics, Affiliated Hospital of Guiyang Medical College, Guiyang 550004, PR China. liuweiliang205@yahoo.com.cn
Wei-Liang
WL
Liu
Fang
F
Li
Zhi-Xu
ZX
He
Hong-Yu
HY
Jiang
Rong
R
Ai
Xiao-Xia
XX
Chen
Kang
K
Huang
D000927:Anticonvulsants / Q000627:therapeutic use; D003414:Crigler-Najjar Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D004252:DNA Mutational Analysis; D005091:Exons; D014453:Glucuronosyltransferase / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010634:Phenobarbital / Q000627:therapeutic use; D010789:Phototherapy
D000927:Anticonvulsants; D014453:Glucuronosyltransferase; D010634:Phenobarbital