Study on Pathogenic genes of non-syndromic familial aortic dissection
YANG Jin
JING Zai-ping
LI Zhao-hui
LI Gang-zhi
Abstract：Objective To analyze members of families with non-syndromic familial aortic dissection and explore the pathogenic genes and mutation sites in these families.Methods The blood samples and medical records of the patients diagnosed with non-syndromic familial"aortic dissection"and their familial members from October 2008 to July 2020 were collected from the Suining Central Hospital and Shanghai Changhai Hospital.The exome capture,gene sequencing and bioinformatics analysis were performed on the blood samples to identify the susceptibility genes for non-syndromic familial aortic dissection.Results The blood samples and clinical information of 48 members from 3 families were screened and collected.Through sequencing analysis,3 mutational site in 2 mutant genes were found most associated with non-syndromic familial aortic dissection,i.e.,COL3A1 gene mutation c.2753G＞A(p.G918E),FBN1 gene mutation c.5678A＞G(p.N1893S)and COL3A1 gene mutation c.1979G＞T(p.G660V).Based on a comprehensive analysis of all the patients,69 common mutational site in 9 common mutant genes were found,of which ZNF806 had the highest mutation frequency(36％).Conclusion FBN1 and COL3A1 would be the susceptibility genes of non-syndrome-family aortic dissection.Non-syndromic familial aortic dissection has familial aggregation and heredity.Gene sequencing of these nuclear families is the key to screen the susceptibility genes and study the pathogenic mechanism of aortic dissection.
Keywords：Non-syndromic aortic dissectionFamilial aggregationPathogenic genes
Publication Date：2024-10-10
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 918-922 )