Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene
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Yan Li, Yu-jin Qu, Xue-mei Zhong, Yan-yan Cao, Li-min Jin, Jin-li Bai, Xin Ma, Yu-wei Jin, Hong Wang, Yan-ling Zhang, Fang Song. Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene[J]. Journal of Zhejiang University Science B, 2014, 15(5): 474-481.
@article{title="Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene",
author="Yan Li, Yu-jin Qu, Xue-mei Zhong, Yan-yan Cao, Li-min Jin, Jin-li Bai, Xin Ma, Yu-wei Jin, Hong Wang, Yan-ling Zhang, Fang Song",
journal="Journal of Zhejiang University Science B",
volume="15",
number="5",
pages="474-481",
year="2014",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B1300233"
}
%0 Journal Article
%T Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene
%A Yan Li
%A Yu-jin Qu
%A Xue-mei Zhong
%A Yan-yan Cao
%A Li-min Jin
%A Jin-li Bai
%A Xin Ma
%A Yu-wei Jin
%A Hong Wang
%A Yan-ling Zhang
%A Fang Song
%J Journal of Zhejiang University SCIENCE B
%V 15
%N 5
%P 474-481
%@ 1673-1581
%D 2014
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1300233
TY - JOUR
T1 - Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene
A1 - Yan Li
A1 - Yu-jin Qu
A1 - Xue-mei Zhong
A1 - Yan-yan Cao
A1 - Li-min Jin
A1 - Jin-li Bai
A1 - Xin Ma
A1 - Yu-wei Jin
A1 - Hong Wang
A1 - Yan-ling Zhang
A1 - Fang Song
J0 - Journal of Zhejiang University Science B
VL - 15
IS - 5
SP - 474
EP - 481
%@ 1673-1581
Y1 - 2014
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1300233
Abstract: crigler-Najjar syndrome type I (CN-I) is the most severe type of hereditary unconjugated hyperbilirubinemia. It is caused by homozygous or compound heterozygous mutations of the UDP-glycuronosyltransferase gene (UGT1A1) on chromosome 2q37. Two patients clinically diagnosed with CN-I were examined in this paper. We sequenced five exons and their flanking sequences, specifically the promoter region of UGT1A1, of the two patients and their parents. Quantitative real-time polymerase chain reaction (qRT-PCR) was used to determine the UGT1A1 gene copy number of one patient. In patient A, two mutations, c.239_245delCTGTGCC (p.Pro80HisfsX6; had not been reported previously) and c.1156G>T (p.Val386Phe), were identified. In patient B, we found that this patient had lost heterozygosity of the UGT1A1 gene by inheriting a deletion of one allele, and had a novel mutation c.1253delT (p.Met418ArgfsX5) in the other allele. In summary, we detected three UGT1A1 mutations in two CN-I patients: c.239_245delCTGTGCC (p.Pro80HisfsX6), c.1253delT (p.Met418ArgfsX5), and c.1156G>T (p.Val386Phe). The former two mutations are pathogenic; however, the pathogenic mechanism of c.1156G>T (p.Val386Phe) is unknown.
Full Text:
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CLC number: R722
On-line Access: 2024-08-27
Received: 2023-10-17
Revision Accepted: 2024-05-08
Crosschecked: 2014-04-16
Cited: 3
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