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胱硫醚β-合酶基因座上导致同型胱氨酸尿症的四个新突变。

Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.

作者信息

Coudé M, Aupetit J, Zabot M T, Kamoun P, Chadefaux-Vekemans B

机构信息

Hôpital Necker-Enfants Malades, Paris, France.

出版信息

J Inherit Metab Dis. 1998 Dec;21(8):823-8. doi: 10.1023/a:1005466601461.

DOI:10.1023/a:1005466601461
PMID:9870207
Abstract

We describe four new mutations in the cystathionine beta-synthase gene: three point mutations localized in exons 3, 9 and 10 and one mutation in exon 12 which results in stop codon.

摘要

我们描述了胱硫醚β-合酶基因中的四个新突变：三个点突变分别位于外显子3、9和10，一个位于外显子12的突变导致了终止密码子。

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J Inherit Metab Dis. 1998 Dec;21(8):823-8. doi: 10.1023/a:1005466601461.
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The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

本文引用的文献

1
Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.两名法国吡哆醇反应性同型胱氨酸尿症患者的胱硫醚β-合酶蛋白C末端部分出现两个新突变（K384E和L539S）。
Hum Mutat. 1997;9(1):81-2. doi: 10.1002/(SICI)1098-1004(1997)9:1<81::AID-HUMU18>3.0.CO;2-L.
2
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.胱硫醚β合酶Gly307Ser突变杂合子中的可变高同型半胱氨酸血症表型
Aust N Z J Med. 1996 Apr;26(2):180-5. doi: 10.1111/j.1445-5994.1996.tb00882.x.
3
CBS基因的p.T191M突变在来自西班牙、葡萄牙和南美洲的同型胱氨酸尿症患者中非常普遍。
J Hum Genet. 2006;51(4):305-313. doi: 10.1007/s10038-006-0362-0. Epub 2006 Feb 15.
Molecular defect in a patient with pyridoxine-responsive homocystinuria.
一名对吡哆醇有反应的同型胱氨酸尿症患者的分子缺陷。
Hum Mol Genet. 1993 Jun;2(6):815-6. doi: 10.1093/hmg/2.6.815.
4
A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.用于表达人胱硫醚β-合酶的酵母系统：人和酵母基因的结构与功能保守性
Proc Natl Acad Sci U S A. 1994 Jul 5;91(14):6614-8. doi: 10.1073/pnas.91.14.6614.
5
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.具有不同同型胱氨酸尿症表型的兄弟姐妹中的相同基因型：使用改进的细菌表达系统鉴定胱硫醚β-合酶中的三个突变。
Hum Mol Genet. 1994 Jul;3(7):1103-8. doi: 10.1093/hmg/3.7.1103.
6
Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.科姆罗尔讲座。同型胱氨酸尿症表型表达的分子基础。
J Inherit Metab Dis. 1994;17(4):383-90. doi: 10.1007/BF00711354.
7
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Hum Mol Genet. 1993 Oct;2(10):1633-8. doi: 10.1093/hmg/2.10.1633.
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9
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.意大利家族中因胱硫醚β-合酶缺乏导致的同型胱氨酸尿症的分子基础，以及四个新突变的报告。
Am J Hum Genet. 1995 Jun;56(6):1324-33.
10
Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.同型胱氨酸尿症患者胱硫醚β-合酶基因中的两个新型错义突变。
Hum Genet. 1995 Aug;96(2):249-50. doi: 10.1007/BF00207394.