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

血管型Ehlers-Danlos综合征（vEDS）是一种严重的常染色体显性遗传病，由α1 Ⅲ型胶原基因（COL 3A 1）突变引起。COL 3A 1基因的序列分析表明，杂合点突变导致甘氨酸取代，只有9例（45%），而杂合剪接位点突变的三螺旋外显子的交界处观察到在其余11例（55%）。培养的真皮成纤维细胞中的平均III型胶原产生水平为正常值的14.6%。并发症的类型与COL 3A 1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.