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

BMC Pediatrics

Zhifeng Liu¹  Jin Yu¹  Guorui Hu²  Bixia Zheng¹ 

[1] Department of Gastroenterology, Nanjing Children’s Hospital Affiliated to Nanjing Medical University, Nanjing 210008, China;Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China

关键词: Genetic analysis;    UGT1A1;    Crigler-Najjar syndrome type II;   

Others  :  1121173
DOI  :  10.1186/1471-2431-14-267

 received in 2014-08-13, accepted in 2014-10-09,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Zheng et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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