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在COL3A1基因中，单碱基突变将第1021位的甘氨酸替换为谷氨酸，导致IV型埃勒斯-当洛综合征。

Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.

作者信息

Narcisi P, Wu Y, Tromp G, Earley J J, Richards A J, Pope F M, Kuivaniemi H

机构信息

Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.

出版信息

Am J Med Genet. 1993 May 15;46(3):278-83. doi: 10.1002/ajmg.1320460308.

DOI:10.1002/ajmg.1320460308
PMID:8098182
Abstract

The proposita described here was a 24-year-old woman with an acrogeric form of the Ehlers-Danlos syndrome including a massive dissecting aortic aneurysm. She was found to have a single-base mutation that substituted glutamic acid for glycine at amino acid position 1021 in the triple-helical domain of the type III procollagen. It is the most carboxy-terminal single-base mutation characterized to date in the COL3A1 gene. Analysis of medium and cell layer proteins from proposita's cultured skin fibroblasts showed that the mutant protein was poorly secreted, migrated more slowly on a polyacrylamide gel, and was partially unstable at +25 degrees C to brief digestion with trypsin.

摘要

本文所述的先证者是一名24岁女性，患有埃勒斯-当洛综合征的肢端型，包括巨大的主动脉夹层动脉瘤。她被发现有一个单碱基突变，该突变在III型前胶原三螺旋结构域的第1021位氨基酸处用谷氨酸替代了甘氨酸。这是迄今为止在COL3A1基因中鉴定出的最靠近羧基端的单碱基突变。对先证者培养的皮肤成纤维细胞的培养基和细胞层蛋白进行分析表明，突变蛋白分泌不良，在聚丙烯酰胺凝胶上迁移较慢，并且在25摄氏度下对胰蛋白酶的短暂消化部分不稳定。

相似文献

1
Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.在COL3A1基因中，单碱基突变将第1021位的甘氨酸替换为谷氨酸，导致IV型埃勒斯-当洛综合征。
Am J Med Genet. 1993 May 15;46(3):278-83. doi: 10.1002/ajmg.1320460308.
2
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.III型前胶原基因中的单碱基突变，该突变在埃勒斯-当洛综合征IV型的一个轻度变异型中将第883位甘氨酸密码子转变为天冬氨酸。
J Biol Chem. 1989 Nov 15;264(32):19313-7.
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Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.对COL3A1基因进行单链构象多态性（SSCP）分析检测到一个突变，该突变导致第1009位甘氨酸被缬氨酸取代，并引起严重的IV型埃勒斯-当洛综合征。
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Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
Am J Hum Genet. 1992 Sep;51(3):497-507.
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A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.
J Inherit Metab Dis. 1992;15(3):426-30. doi: 10.1007/BF02435995.
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Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.在一个患有IV型埃勒斯-当洛综合征可变表型的家族中，III型前胶原（COL3A1）三螺旋结构域中的甘氨酸589被谷氨酸替代。
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A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.
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Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.III型前胶原的一个COL3A1等位基因单倍剂量不足会导致一种类似于埃勒斯-当洛综合征血管型（IV型埃勒斯-当洛综合征）的表型。
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Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.IV型埃勒斯-当洛综合征中III型前胶原的分子缺陷
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Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.在一个患有主动脉瘤且易出现瘀斑的家族中，III型前胶原基因（COL3A1）的RNA剪接突变（G+1 IVS20）的遗传：家族性动脉动脉瘤与IV型埃勒斯-当洛综合征之间的表型重叠。
Am J Hum Genet. 1990 Jul;47(1):112-20.

引用本文的文献

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Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts.IV 型埃勒斯-当洛斯综合征皮肤成纤维细胞细胞外基质和赖氨酰氧化酶失调。
Orphanet J Rare Dis. 2024 Jan 5;19(1):9. doi: 10.1186/s13023-023-03007-7.
2
Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.III 型胶原（COL3A1）：基因和蛋白质结构、组织分布及相关疾病。
Gene. 2019 Jul 30;707:151-171. doi: 10.1016/j.gene.2019.05.003. Epub 2019 May 7.
3
Spontaneous hemo-pneumothorax in a patient with Ehlers-Danlos syndrome.
一名患有埃勒斯-丹洛斯综合征的患者出现自发性血气胸。
Gen Thorac Cardiovasc Surg. 2012 Sep;60(9):587-9. doi: 10.1007/s11748-012-0047-x. Epub 2012 May 19.
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Ehlers-Danlos syndrome type IV.IV型埃勒斯-当洛综合征
Orphanet J Rare Dis. 2007 Jul 19;2:32. doi: 10.1186/1750-1172-2-32.
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The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.III型胶原蛋白中第661位的甘氨酸被精氨酸取代，会产生具有不同热稳定性的突变分子，并导致IV型埃勒斯-当洛综合征。
J Med Genet. 1993 Aug;30(8):690-3. doi: 10.1136/jmg.30.8.690.
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A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.原纤维蛋白-1基因的表皮生长因子样结构域中的Gly1127Ser突变是升主动脉瘤和主动脉夹层的一个危险因素。
Am J Hum Genet. 1995 Jun;56(6):1287-96.