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Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.

作者信息

Sperandeo M P, Panico M, Pepe A, Candito M, de Franchis R, Kraus J P, Andria G, Sebastio G

机构信息

Department of Pediatrics, Federico II University, Naples, Italy.

出版信息

J Inherit Metab Dis. 1995;18(2):211-4. doi: 10.1007/BF00711769.

DOI:10.1007/BF00711769
PMID:7564249
Abstract
摘要

相似文献

1
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.因胱硫醚β-合酶缺乏导致同型胱氨酸尿症患者的分子分析：外显子8新突变及内含子11缺失的报告
J Inherit Metab Dis. 1995;18(2):211-4. doi: 10.1007/BF00711769.
2
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.维生素B6反应性和非反应性同型胱氨酸尿症中胱硫醚β-合酶缺乏的分子基础。
Hum Mol Genet. 1993 Nov;2(11):1857-60. doi: 10.1093/hmg/2.11.1857.
3
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.
4
Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.
FEBS Lett. 1998 Jul 17;431(2):175-9. doi: 10.1016/s0014-5793(98)00743-1.
5
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.捷克和斯洛伐克高胱氨酸尿症患者CBS等位基因分析：关于三种新突变E176K、W409X和1223 + 37 del99的报告
J Inherit Metab Dis. 1997 Jul;20(3):363-6. doi: 10.1023/a:1005325911665.
6
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.通过在大肠杆菌中表达患者的cDNA片段来筛选突变：由于胱硫醚β-合酶缺乏导致的同型胱氨酸尿症。
Hum Mutat. 1992;1(2):113-23. doi: 10.1002/humu.1380010206.
7
Identification of a splice site mutation in the cystathionine beta-synthase gene resulting in variable and novel splicing defects of pre-mRNA.在胱硫醚β-合酶基因中鉴定出一个剪接位点突变，该突变导致前体mRNA出现可变且新颖的剪接缺陷。
Biochem Mol Med. 1997 Jun;61(1):9-15. doi: 10.1006/bmme.1997.2591.
8
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.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。
J Inherit Metab Dis. 1998 Dec;21(8):823-8. doi: 10.1023/a:1005466601461.
9
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.奥地利两个患有胱硫醚β-合酶缺乏症家庭中高胱氨酸尿症的分子与临床特征分析
Acta Med Austriaca. 2001;28(5):145-51. doi: 10.1046/j.1563-2571.2001.01035.x.
10
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.胱硫醚β-合酶缺乏症的临床特征：范围有多广？意大利高胱氨酸尿症协作研究组
Eur J Pediatr. 1998 Apr;157 Suppl 2:S67-70. doi: 10.1007/pl00014309.

引用本文的文献

1
Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria.一组斯里兰卡同型胱氨酸尿症患者的基因型谱
JIMD Rep. 2025 Jan 21;66(1):e12470. doi: 10.1002/jmd2.12470. eCollection 2025 Jan.
2
The Spectrum of Mutations of Homocystinuria in the MENA Region.中东和北非地区同型胱氨酸尿症的突变谱
Genes (Basel). 2020 Mar 20;11(3):330. doi: 10.3390/genes11030330.
3
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.CBS突变是维生素B6反应性的良好预测指标：一项基于对35例巴西经典型同型胱氨酸尿症患者分析的研究。

本文引用的文献

1
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.
2
Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.人胱硫醚β-合酶cDNA：序列、可变剪接及在培养细胞中的表达
Hum Mol Genet. 1993 Oct;2(10):1633-8. doi: 10.1093/hmg/2.10.1633.
3
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.维生素B6反应性和非反应性同型胱氨酸尿症中胱硫醚β-合酶缺乏的分子基础。
Mol Genet Genomic Med. 2018 Mar;6(2):160-170. doi: 10.1002/mgg3.342. Epub 2018 Jan 20.
4
A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.一种用于原发性自发性气胸患者Birt-Hogg-Dubé综合征综合分子诊断的快速二代测序策略。
Respir Res. 2016 May 27;17(1):64. doi: 10.1186/s12931-016-0377-9.
5
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.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.
6
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.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。
J Inherit Metab Dis. 1998 Dec;21(8):823-8. doi: 10.1023/a:1005466601461.
7
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.捷克和斯洛伐克高胱氨酸尿症患者CBS等位基因分析：关于三种新突变E176K、W409X和1223 + 37 del99的报告
J Inherit Metab Dis. 1997 Jul;20(3):363-6. doi: 10.1023/a:1005325911665.
8
High prevalence of a mutation in the cystathionine beta-synthase gene.胱硫醚β-合酶基因突变的高患病率。
Am J Hum Genet. 1996 Dec;59(6):1262-7.
9
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.四名同型胱氨酸尿症 obligate 杂合子对蛋氨酸激发试验的同型半胱氨酸反应及其与胱硫醚β-合酶突变的关系
J Inherit Metab Dis. 1996;19(3):351-6. doi: 10.1007/BF01799266.
Hum Mol Genet. 1993 Nov;2(11):1857-60. doi: 10.1093/hmg/2.11.1857.
4
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.通过在大肠杆菌中表达患者的cDNA片段来筛选突变：由于胱硫醚β-合酶缺乏导致的同型胱氨酸尿症。
Hum Mutat. 1992;1(2):113-23. doi: 10.1002/humu.1380010206.
5
DNA sequencing with chain-terminating inhibitors.使用链终止抑制剂的DNA测序。
Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7. doi: 10.1073/pnas.74.12.5463.