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Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.

作者信息

Houten S M, Frenkel J, Kuis W, Wanders R J, Poll-The B T, Waterham H R

机构信息

Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 2000 Jun;23(4):367-70. doi: 10.1023/a:1005687415434.

DOI:10.1023/a:1005687415434
PMID:10896296
Abstract
摘要

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Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.经典型甲羟戊酸尿症以及高免疫球蛋白D血症和周期性发热综合征的分子基础：甲羟戊酸激酶基因中3种突变的高频率
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3
[Identification of the gene for hyper-IgD syndrome: a model of modern genetics].[高IgD综合征基因的鉴定：现代遗传学模型]
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Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.儿童高免疫球蛋白D血症周期性发热的临床和分子变异性
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Hum Mol Genet. 2002 Dec 1;11(25):3115-24. doi: 10.1093/hmg/11.25.3115.
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Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.甲羟戊酸激酶（MVK）基因的组织结构以及导致甲羟戊二酸尿症、高免疫球蛋白血症D和周期性发热综合征的新突变的鉴定。
Eur J Hum Genet. 2001 Apr;9(4):253-9. doi: 10.1038/sj.ejhg.5200595.
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Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.一名患有周期性发热且无高免疫球蛋白血症D的儿童的甲羟戊酸激酶缺乏症
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Periodic fever in children with hyperimmunoglobulinemia D and mevalonate kinase mutations.伴有高免疫球蛋白D血症和甲羟戊酸激酶突变儿童的周期性发热
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Hereditary periodic fever.遗传性周期性发热
N Engl J Med. 2002 May 2;346(18):1415-6; author reply 1415-6.

引用本文的文献

1
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.患有高免疫球蛋白 D 综合征的南印度家族中，甲羟戊酸激酶（MVK）基因的临床特征和遗传变异谱。
PLoS One. 2020 Aug 21;15(8):e0237999. doi: 10.1371/journal.pone.0237999. eCollection 2020.
2
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.12例无亲缘关系的高免疫球蛋白D血症和周期性发热综合征患者中的甲羟戊酸尿症
J Inherit Metab Dis. 2000 Jun;23(4):363-6. doi: 10.1023/a:1005635431364.

本文引用的文献

1
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.12例无亲缘关系的高免疫球蛋白D血症和周期性发热综合征患者中的甲羟戊酸尿症
J Inherit Metab Dis. 2000 Jun;23(4):363-6. doi: 10.1023/a:1005635431364.
2
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.甲羟戊酸激酶缺乏症中一个突变簇的鉴定，包括一名门诺派血统患者中的一个新突变。
Am J Hum Genet. 1999 Aug;65(2):327-35. doi: 10.1086/302489.
3
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
Hum Mol Genet. 1999 Aug;8(8):1523-8. doi: 10.1093/hmg/8.8.1523.
4
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.编码甲羟戊酸激酶的基因突变会导致高IgD血症和周期性发热综合征。国际高IgD血症研究小组。
Nat Genet. 1999 Jun;22(2):178-81. doi: 10.1038/9696.
5
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.编码甲羟戊酸激酶的MVK基因突变会导致高免疫球蛋白血症D和周期性发热综合征。
Nat Genet. 1999 Jun;22(2):175-7. doi: 10.1038/9691.
6
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.通过对甲羟戊酸激酶缺乏症中一种新突变的特征分析鉴定甲羟戊酸激酶的活性位点丙氨酸
J Biol Chem. 1997 Oct 17;272(42):26756-60. doi: 10.1074/jbc.272.42.26756.
7
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.11例甲羟戊酸尿症患者的临床和生化表型
Pediatrics. 1993 May;91(5):915-21.
8
Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.高免疫球蛋白D血症与周期性发热综合征。50例患者的临床谱。国际高IgD研究组
Medicine (Baltimore). 1994 May;73(3):133-44.
9
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.人甲羟戊酸激酶的分子克隆及遗传性疾病甲羟戊酸尿症中一个错义突变的鉴定。
J Biol Chem. 1992 Jul 5;267(19):13229-38.
10
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.采用二乙氨基乙基纤维素柱色谱法进行甲羟戊酸激酶测定用于孕早期甲羟戊酸尿症的产前诊断和互补分析。
J Inherit Metab Dis. 1992;15(5):738-46. doi: 10.1007/BF01800016.