Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
نویسندگان
چکیده
The aim of this study was to identify new pathogenic variations of the UGT1A1 gene in 11 patients diagnosed with neonatal unconjugated hyperbilirubinemia. We describe two cases in which clinically unapparent heterozygotic mutations in the UGT1A1 gene may become evident in combination with certain environmental conditions or additional genetic defects.
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...
متن کاملA novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I.
Human uridine 5'-diphosphate-glucuronosyltransferases play a critical role in detoxification by conjugating bilirubin with glucoronic acid. Impaired or reduced enzymatic activity causes a spectrum of clinical disorders such as Crigler-Najjar syndrome type I (CN1), Crigler-Najjar syndrome type II, and Gilbert's syndrome. CN1 is a severe form of unconjugated hyperbilirubinemia caused by homozygou...
متن کاملCrigler-Najjar syndrome type II in a Chinese boy
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 unc...
متن کاملAnalysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia.
This study was carried out to analyze uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1) gene mutations in neonates with unconjugated hyperbilirubinemia, from two different ethnic groups. Polymerase chain reaction and gene sequencing were used to analyze the differences in genotypes and allele frequencies of different gene mutations among the ethnic groups; this was followed by chec...
متن کاملProlonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.
OBJECTIVE Breast milk jaundice is a common problem in nursing infants. It has been ascribed to various breast milk substances, but the component or combination of components that is responsible remains unknown. During our study of defects of the bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) in patients with hereditary unconjugated hyperbilirubinemia (Crigler-Najjar syndrom...
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ورودعنوان ژورنال:
- Haematologica
دوره 92 1 شماره
صفحات -
تاریخ انتشار 2007