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| Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene |
| 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 |
| Department of Medical Genetics, Capital Institute of Pediatrics, Beijing 100020, China; Department of Gastroenterology, Affiliated Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China |
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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.
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Received: 01 September 2013
Published: 05 May 2014
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Cite this article:
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. Journal of Zhejiang University-SCIENCE B (Biomedicine & Biotechnology), 2014, 15(5): 474-481.
URL:
http://www.zjujournals.com/xueshu/zjus-b/10.1631/jzus.B1300233 OR http://www.zjujournals.com/xueshu/zjus-b/Y2014/V15/I5/474
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