PDF(Pubmed)
Abstract：
Vascular Ehlers-Danlos syndrome (vEDS), the most severe type of Ehlers-Danlos syndrome, is caused by an autosomal-dominant defect in the COL3A1 gene. In this report, we describe the clinical history, specific phenotype, and genetic diagnosis of a man who died of vEDS. The precise diagnosis of this case using whole-exome sequencing provided solid evidence for the cause of death, demonstrating the practical value of genetic counseling and analysis. Early diagnosis for the proband\'s son, who was also affected by vEDS, revealed initial complications of vEDS in early childhood, which have rarely been reported. We also reviewed the literature on COL3A1 missense mutations and related phenotypes. We identified an association between digestion tract events and non-glycine missense variants, which disproves a previous hypothesis regarding the genotype-phenotype correlation of vEDS. Our results demonstrate the necessity of offering comprehensive genetic testing for every patient suspected of having vEDS.
摘要：
血管Ehlers-Danlos综合征（vEDS），最严重的Ehlers-Danlos综合征,是由COL3A1基因的常染色体显性缺陷引起的。在这份报告中,我们描述了临床病史，特定表型，和一个死于vEDS的人的基因诊断。使用全外显子组测序对该病例的精确诊断为死因提供了确凿的证据,证明了遗传咨询和分析的实用价值。对先证者儿子的早期诊断,谁也受到vEDS的影响，在儿童早期发现vEDS的初始并发症，很少有报道。我们还回顾了有关COL3A1错义突变和相关表型的文献。我们确定了消化道事件与非甘氨酸错义变异之间的关联，这推翻了先前关于vEDS基因型-表型相关性的假设。我们的结果表明，有必要为每位怀疑患有vEDS的患者提供全面的基因检测。
