A homozygous mutation in a Chinese man with Crigler–Najjar syndrome type II and a family genetic analysis

Wu, Jian; Cheng, Guang Yu; Huang, Jian

doi:10.1111/j.1751-2980.2008.00328.x

Cited by 3 publications

(3 citation statements)

References 16 publications

(29 reference statements)

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“…We reviewed Crigler–Najjar case reports in NCBI PubMed, EMBASE, HGMD and OMIM and found that the spectra are marked variable in different populations. The compound homozygous G71R variant and Y486D variant were detected in 14 of 27 East Asian CNS-II patients [ 6 – 12 , 20 – 26 ], while only in one of 58 Caucasian CNS-II patients and in one of 14 other racial CNS-II patients from India, Pakistani and so on (East Asian patients listed in Table 5 ; Caucasian and other racial patients listed in ( S2 Table : UGT1A1 genotype of Caucasian and other racial previous reported CNS-II cases).…”

Section: Discussionmentioning

confidence: 99%

Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II

Deng

Mao

2015

PLoS ONE

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Crigler–Najjar Syndrome type II (CNS-II) is an autosomal recessive hereditary condition of unconjugated hyperbilirubinemia without hemolysis, with bilirubin levels ranging from 102.6 μmol/L to 342 μmol/L. CNS-II is caused by a deficiency of UDP-glucuronyl transferase (UGT), which is encoded by the UDP-glucuronyl transferase 1A1 gene (UGT1A1). In East Asian populations, the compound homozygous UGT1A1 G71R and Y486D variants are frequently observed in cases with bilirubin levels exceeding 200 μmol/L. In this study, we investigated the spectrum of UGT1A1 variations in Chinese CNS-II patients. We sequenced the enhancer, promoter, and coding regions of UGT1A1 in 11 unrelated Chinese CNS-II patients and 80 healthy controls. Nine of these patients carried variations that are here reported for the first time in CNS-II patients, although they have been previously reported for other types of hereditary unconjugated hyperbilirubinemia. These individual variations have less influence on UGT activity than do the compound homozygous variation (combination of homozygous G71R variant and Y486D variant). Therefore, we propose that the spectrum of UGT1A1 variations in CNS-II differs according to the bilirubin levels.

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Section: Discussionmentioning

confidence: 99%

Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II

Deng

Mao

2015

PLoS ONE

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“…Polymorphism p.G71R is the most frequent genetic cause of GS in Asian populations with a frequency of 11%-21% (Single Nucleotide Polymorphism Database [dbSNP]). The missense mutation p.Y486D has been reported previously in CNS-II patients in Japan and China [ 11 , 12 ]. In previously reported CNS-II cases, the p.Y486D and p.G71R often were observed in the same heterozygous/homozygous state [ 13 – 15 ].…”

Section: Discussionmentioning

confidence: 99%

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

Zheng

et al. 2014

BMC Pediatr

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BackgroundThe 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 presentationIn 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.ConclusionUGT1A1 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.

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“…The incidence of CNS is estimated to be 1 in 1,000,000 births. There were a few cases of CNS-II reported in china [5][6][7]. Qing Mao's research showed the spectrum ofUGT1A1 mutations in 11 CNS-II patients in China [6].…”

Section: Cns-imentioning

confidence: 99%

UGT1a1 Gene Mutations in a Tibetan Patient with Crigler-Najjar SyndromeType II - Case Report and Literature Review

Tang

2018

CTCMI

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Crigler-Najjar Syndrome (CNS) is un conjugated hyperbilirubinemia caused by mutations in bilirubin UDP-glucuronosyl transferase (UGT1A1) gene which can transform the un conjugated bilirubin by conjugating it with glucuronic acid. There are two types of CNS.CNS-I is fatal because of the bilirubin encephalopathy combined with severe un conjugated hyperbilirubinaemia, while CNS-II is a moderate form of hyperbilirubinemia and can be treated with phenobarbital therapy. The CNS-II has never been reported in Tibetan population. This is the first reported case of Tibetan patient with CNS-II based on the UGT1A1 gene analysis.

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A homozygous mutation in a Chinese man with Crigler–Najjar syndrome type II and a family genetic analysis

Abstract: A missense mutation of Tyr486Asp is considered to be the cause of the CN-II in this patient. It is a recessive trait that is autosomally inherited in this family. No influence of the mutation was found on the response elements for phenobarbital in the promoter region.

Cited by 3 publications

References 16 publications

Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II

Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II

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

UGT1a1 Gene Mutations in a Tibetan Patient with Crigler-Najjar SyndromeType II - Case Report and Literature Review

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