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IV型埃勒斯-当洛综合征：表型与III型前胶原的COL3A1等位基因共分离。

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.

作者信息

Tsipouras P, Byers P H, Schwartz R C, Chu M L, Weil D, Pepe G, Cassidy S B, Ramirez F

出版信息

Hum Genet. 1986 Sep;74(1):41-6. doi: 10.1007/BF00278783.

DOI:10.1007/BF00278783
PMID:2875936
Abstract

Ehlers-Danlos syndrome (EDS) type IV is a rare and catastrophic genetic disorder of the connective tissue. Individuals from two families with this disorder were studied for a restriction fragment length polymorphism (RFLP) associated with the COL3A1 gene. Our results suggested cosegregation of the EDS type IV phenotype with a COL3A1 RFLP allele. Biochemical studies in cultured skin fibroblasts indicated the presence of different mutations affecting the stability and secretion of the pro alpha 1(III) chains of type III procollagen in the two families, thus suggesting that EDS type IV is biochemically heterogeneous. Our data demonstrated the feasibility of molecular diagnosis in this condition using COL3A1 gene related RFLPs.

摘要

IV型埃勒斯-当洛综合征（EDS）是一种罕见且严重的结缔组织遗传性疾病。对两个患有这种疾病的家族中的个体进行了与COL3A1基因相关的限制性片段长度多态性（RFLP）研究。我们的结果表明IV型EDS表型与COL3A1 RFLP等位基因共分离。对培养的皮肤成纤维细胞进行的生化研究表明，这两个家族中存在不同的突变，这些突变影响III型前胶原α1(III)链的稳定性和分泌，因此表明IV型EDS在生化上具有异质性。我们的数据证明了使用与COL3A1基因相关的RFLP对这种疾病进行分子诊断的可行性。

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1
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.IV型埃勒斯-当洛综合征：表型与III型前胶原的COL3A1等位基因共分离。
Hum Genet. 1986 Sep;74(1):41-6. doi: 10.1007/BF00278783.
2
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。
Am J Hum Genet. 2001 Nov;69(5):989-1001. doi: 10.1086/324123. Epub 2001 Sep 27.
3
Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.在一个大家庭中排除COL1A1、COL1A2和COL3A1基因作为Ⅰ型埃勒斯-当洛综合征候选基因的可能性。
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Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.由于III型前胶原COL3A1基因中的一个点突变（G571S）导致的IV型埃勒斯-当洛综合征的大家族：一些受影响亲属的妊娠并发症风险低且寿命意外延长。
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Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree.在一个大型比利时家系中，III型胶原蛋白基因（COL3A1）的多态性标记与非典型常染色体显性IV型埃勒斯-当洛综合征的连锁关系。
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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。
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Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.IV型埃勒斯-当洛综合征：两个COL3A1等位基因之一中的多外显子缺失，影响III型前胶原的结构、稳定性和加工过程。
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Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.IV型埃勒斯-当洛综合征：一个COL3A1等位基因剪接突变的表型后果
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Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.COL3A1基因的剪接缺陷：外显子跳跃突变和IV型埃勒斯-当洛综合征患者中5'（供体）剪接位点突变的明显偏好。
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A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.COL3A1基因内含子7供体剪接位点的T+6至C+6突变导致外显子跳跃，进而引发IV型埃勒斯-当洛综合征。
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Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.III型胶原蛋白（COL3A1）等位基因中具有异常末端的多外显子缺失导致的亲本体细胞和生殖系嵌合现象，在杂合子后代中产生了IV型埃勒斯-当洛综合征。
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