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Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler-Najjar syndrome type 1.

作者信息

Ghorbani Mohammad Javad, Dehghani Seyed Mohsen

机构信息

Neonatal Research Center, Shiraz University of Medical Science, Shiraz, Iran.

Gastroenterohepatology Research Center, Nemazee Teaching Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

Mol Genet Genomic Med. 2021 Nov;9(11):e1805. doi: 10.1002/mgg3.1805. Epub 2021 Sep 21.

DOI:10.1002/mgg3.1805
PMID:34545702
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8606201/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6191/8606201/9b890cc5eb59/MGG3-9-e1805-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6191/8606201/e62588c83e93/MGG3-9-e1805-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6191/8606201/9b890cc5eb59/MGG3-9-e1805-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6191/8606201/e62588c83e93/MGG3-9-e1805-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6191/8606201/9b890cc5eb59/MGG3-9-e1805-g001.jpg

相似文献

1
Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler-Najjar syndrome type 1.
Mol Genet Genomic Med. 2021 Nov;9(11):e1805. doi: 10.1002/mgg3.1805. Epub 2021 Sep 21.
2
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.克里格勒-纳贾尔（CN）综合征患者中UGT1A1基因突变谱：十二个新等位基因的鉴定及基因型-表型相关性
Hum Mutat. 2005 Mar;25(3):325. doi: 10.1002/humu.9322.
3
Compound heterozygosity of a novel exon 3 frameshift (p.R357P fs*24) mutation and Y486D mutation in exon 5 of the UGT1A1 gene in a Thai infant with Crigler-Najjar syndrome type 2.一名患有2型克里格勒-纳贾尔综合征的泰国婴儿中，UGT1A1基因外显子3的一种新型移码突变（p.R357P fs*24）与外显子5中的Y486D突变的复合杂合性。
Genet Mol Res. 2015 Apr 13;14(2):3293-9. doi: 10.4238/2015.April.13.8.
4
A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome.UGT1A1 基因的一种新移码突变导致 I 型克里格勒-纳贾尔综合征。
Chin Med J (Engl). 2011 Dec;124(23):4109-11.
5
Delayed response to phenobarbital treatment of a Crigler-Najjar type II patient with partially inactivating missense mutations in the bilirubin UDP-glucuronosyltransferase gene.一名患有胆红素UDP-葡萄糖醛酸基转移酶基因部分失活错义突变的克-纳二型患者对苯巴比妥治疗反应延迟。
J Pediatr Gastroenterol Nutr. 1999 Feb;28(2):210-3. doi: 10.1097/00005176-199902000-00024.
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Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.
J Hepatol. 2002 May;36(5):706-7. doi: 10.1016/s0168-8278(02)00034-x.
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UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.患有遗传性非溶血性非结合性高胆红素血症的巴基斯坦儿童的UGT1A1基因突变
Ann Hum Genet. 2013 Nov;77(6):482-7. doi: 10.1111/ahg.12039. Epub 2013 Aug 29.
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[Gilbert disease and type I and II Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus].[由于同一UGT1A1基因座突变导致的吉尔伯特病及Ⅰ型和Ⅱ型克里格勒-纳贾尔综合征]
Med Klin (Munich). 2002 Sep 15;97(9):528-32. doi: 10.1007/s00063-002-1180-6.
9
Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.
J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):362-5. doi: 10.1097/MPG.0b013e3181fcafb8.
10
Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.病例报告：克里格勒-纳贾尔综合征患者的多个 UGT1A1 基因突变。
BMC Pediatr. 2018 Oct 3;18(1):317. doi: 10.1186/s12887-018-1285-6.

本文引用的文献

1
Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays.一名克里格勒-纳贾尔综合征患者的c.864+5G>T和c.996+2_996+5del变异在小基因检测中导致异常剪接。
Front Genet. 2020 Mar 6;11:169. doi: 10.3389/fgene.2020.00169. eCollection 2020.
2
Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth.一名自出生即患有黄疸的患者被诊断为II型克里格勒-纳贾尔综合征。
J Coll Physicians Surg Pak. 2018 Oct;28(10):806-808.
3
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
4
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.吉尔伯特综合征和克里格勒-纳贾尔综合征：尿苷二磷酸葡萄糖醛酸基转移酶 1A1（UGT1A1）基因突变数据库的更新。
Blood Cells Mol Dis. 2013 Apr;50(4):273-80. doi: 10.1016/j.bcmd.2013.01.003. Epub 2013 Feb 9.
5
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.荷兰克里格勒-纳贾尔综合征：鉴定四个新的 UGT1A1 等位基因，基因型-表型相关性，以及 10 个错义突变体的功能分析。
Hum Mutat. 2010 Jan;31(1):52-9. doi: 10.1002/humu.21133.
6
The patient presenting with isolated hyperbilirubinemia.
Dig Liver Dis. 2009 Jun;41(6):375-81. doi: 10.1016/j.dld.2008.11.006. Epub 2009 Feb 3.
7
Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives.I型克里格勒-纳贾尔综合征的肝细胞移植：最新进展与展望
World J Gastroenterol. 2008 Jun 14;14(22):3464-70. doi: 10.3748/wjg.14.3464.
8
The phenobarbital response enhancer module in the human bilirubin UDP-glucuronosyltransferase UGT1A1 gene and regulation by the nuclear receptor CAR.人类胆红素UDP-葡萄糖醛酸基转移酶UGT1A1基因中的苯巴比妥反应增强子模块及核受体CAR的调控
Hepatology. 2001 May;33(5):1232-8. doi: 10.1053/jhep.2001.24172.