Analysis of the genetic and phenotypic findings in Japanese patients with vascular-type Ehlers-Danlos syndrom

血管型ehers - danlos综合征（vEDS）是一种严重的常染色体显性遗传疾病，由α1型胶原蛋白基因（COL3A1）突变引起。COL3A1基因的序列分析显示，只有9例患者（45%）出现杂合点突变导致甘氨酸替代，而其余11例患者（55%）在三螺旋外显子连接处观察到杂合剪接位点突变。培养的真皮成纤维细胞中III型胶原的平均生成水平为正常值的14.6%。并发症的类型与COL3A1的特定突变无关。

Vascular-type Ehlers-Danlos syndrome(vEDS) is a severe autosomal dominant inherited disorder resulting form mutations within theα1 typeIIIcollagen gene(COL3A1). Sequence analyses of the COL3A1 gene demonstrated heterozygous point mutations leading to glycine substitution in only nine patients(45%), while heterozygous splice-site mutations at the junction of the triple-helical exons were observed in the remaining 11 patients(55%). The average type III collagen production level in the cultured dermal fibroblasts was 14.6% of the normal value. The types of complication were not associated with specific mutations in COL3A1.