Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
复制标题
DOI：
10.1038/s41436-019-0444-y
复制
发表时间：
2019-09-01
影响因子：
8.8
通讯作者：
Boileau, Catherine
中科院分区：
文献类型：
--
作者：
Arnaud, Pauline;Hanna, Nadine;Boileau, Catherine
目的：遗传性胸主动脉瘤和夹层（hTAAD）是众所周知的综合征性疾病或诊断不足的非综合征性遗传形式（nshTAAD）的危及生命的并发症。两者均具有常染色体显性遗传，并且具有遗传异质性。我们的目标是描述这些患者中分子诊断的相关性以及每个基因在 nshTAAD 中的贡献。方法：226 个连续的 nshTAAD 先证者，要么是年轻的（
Purpose: Heritable thoracic aortic aneurysms and dissections (hTAAD) are life-threatening complications of well-known syndromic diseases or underdiagnosed nonsyndromic heritable forms (nshTAAD). Both have an autosomal dominant transmission and are genetically heterogeneous. Our objective was to describe the relevance of molecular diagnosis in these patients and the contribution of each gene in nshTAAD.Methods: Two hundred twenty-six consecutive nshTAAD probands, either young (