Crigler-Najjar syndrome type II in a Chinese boy
نویسندگان
چکیده
11 Background: The UGT1A1 gene encodes a responsible enzyme, 12 UDP-glucuronosyltransferase1A1 (UGT1A1), for bilirubin metabolism. Many 13 mutations have already been identified in patients with inherited disorders with 14 unconjugated hyperbilirubinemia, such as Crigler-Najjar syndromes and Gilbert’s 15 syndrome. 16 Case presentation: In this report, we presented a boy with intermittent 17 unconjugated hyperbilirubinemia, whose genetic analysis showed a new 18 compound heterozygote determined by three mutations, c.211G>A (p.G71R), 19 c.508_510delTTC (p.F170-) and c.1456T>G (p.Y486D) in the hotspot regions of 20 the UGT1A1 gene (exons 1 and 5) in Asian populations, presenting a genotype 21 compatible with clinical picture of CNS-II. The family genetic analysis confirmed 22 the origin of these mutations. 23 Conclusion: UGT1A1 gene analysis should be performed in all cases with 24 unexplained unconjugated hyperbilirubinemia. The description of patients with 25 peculiar genotypes especially including family analysis could help explain the 26
منابع مشابه
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
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 hyperbiliru...
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Crigler-Najjar syndrome is a rare autosomal recessive disease caused by mutations in the UGT1A1 gene. These mutations result in the deficiency of UGT1A1, a hepatic enzyme essential for bilirubin conjugation. This report describes the case of a 4-month-old boy with the cardinal symptoms of Crigler-Najjar syndrome type II. Molecular genetic analysis showed a homozygous UGT1A1 promoter mutation [A...
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