Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.
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DOI：
10.3389/fgene.2023.1246712
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发表时间：
2023
影响因子：
3.7
通讯作者：
Gui, Baoheng
中科院分区：
文献类型：
--
作者：
Wei, Xianda;Zhou, Xu;Xie, Bobo;Shi, Meizhen;Gui, Chunrong;Liu, Bo;Li, Caiyan;Zhang, Chi;Luo, Jiefeng;Mi, Cundong;Gui, Baoheng
血管型埃勒-丹洛斯综合征（vEDS）是埃勒-丹洛斯综合征中最严重的一种，由COL3A1基因常染色体显性缺陷引起。在本报告中，我们描述了一个死于vEDS的男性的临床病史，特定表型和遗传诊断。全外显子组测序对该病例的准确诊断为死因提供了确凿的证据，显示了遗传咨询和分析的实用价值。先证者的儿子也受到vEDS的影响，早期诊断显示早期儿童vEDS的初始并发症，很少有报道。我们也回顾了COL3A1错义突变和相关表型的文献。我们发现了消化系统事件与非甘氨酸错义变异之间的关联，这反驳了先前关于vEDS基因型-表型相关性的假设。我们的研究结果表明，有必要为每一位疑似患有vEDS的患者提供全面的基因检测。
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.
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影响因子：
5.2
作者：
Jorgensen, Agnete;Fagerheim, Toril;Byers, Peter H.
通讯作者：
Byers, Peter H.
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Abbassi, Ziad
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通讯作者：
LEROY, J
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作者：
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通讯作者：
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