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一名中国男孩因胆红素尿苷5'-二磷酸葡萄糖醛酸基转移酶（UGT1A1）基因的三个突变导致II型克里格勒-纳贾尔综合征及家族遗传分析

Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis.

作者信息

Zheng Bixia, Hu Guorui, Yu Jin, Liu Zhifeng

机构信息

Department of Gastroenterology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing 210008, China.

出版信息

BMC Pediatr. 2014 Oct 15;14:267. doi: 10.1186/1471-2431-14-267.

DOI:10.1186/1471-2431-14-267
PMID:25319636
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4287334/
Abstract

BACKGROUND

The UGT1A1 gene encodes a responsible enzyme, UDP-glucuronosyltransferase1A1 (UGT1A1), for bilirubin metabolism. Many mutations have already been identified in patients with inherited disorders with unconjugated hyperbilirubinemia, such as Crigler-Najjar syndromes and Gilbert's syndrome.

CASE PRESENTATION

In this report, we presented a boy with intermittent unconjugated hyperbilirubinemia, whose genetic analysis showed a new compound heterozygote determined by three mutations, c.211G > A (p.G71R), c.508_510delTTC (p.F170-) and c.1456 T > G (p.Y486D) in the hotspot regions of the UGT1A1 gene (exons 1 and 5) in Asian populations, presenting a genotype compatible with clinical picture of CNS-II. The family genetic analysis confirmed the origin of these mutations.

CONCLUSION

UGT1A1 gene analysis should be performed in all cases with unexplained unconjugated hyperbilirubinemia. The description of patients with peculiar genotypes especially including family analysis could help explain the relationship between the genotype and phenotype,it is helpful for clinicians to predict the outcome of the patients.

摘要

背景

UGT1A1基因编码一种负责胆红素代谢的酶，即尿苷二磷酸葡萄糖醛酸基转移酶1A1（UGT1A1）。在患有遗传性非结合性高胆红素血症的患者中，如克里格勒-纳贾尔综合征和吉尔伯特综合征，已经发现了许多突变。

病例报告

在本报告中，我们介绍了一名患有间歇性非结合性高胆红素血症的男孩，其基因分析显示在亚洲人群UGT1A1基因（外显子1和5）的热点区域由三个突变确定的一种新的复合杂合子，即c.211G>A（p.G71R）、c.508_510delTTC（p.F170-）和c.1456T>G（p.Y486D），呈现出与CNS-II临床症状相符的基因型。家族基因分析证实了这些突变的来源。

结论

对于所有原因不明的非结合性高胆红素血症病例，均应进行UGT1A1基因分析。对具有特殊基因型的患者进行描述，尤其是包括家族分析，有助于解释基因型与表型之间的关系，有助于临床医生预测患者的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8605/4287334/3be8c3c51a95/12887_2014_1190_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8605/4287334/3be8c3c51a95/12887_2014_1190_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8605/4287334/3be8c3c51a95/12887_2014_1190_Fig1_HTML.jpg

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