Echocardiographic manifestation and analysis of TGFBR1 gene variant in a Chinese patient with Loeys-Dietz syndrome.
10.3760/cma.j.cn511374-20200819-00612
- VernacularTitle:一例Loeys-Dietz综合征患者的超声心动图表现以及
TGFBR1基因变异分析
- Author:
Yueli WANG
1
;
Baorong NIU
;
Rongjuan LI
;
Jinjie XIE
;
Xiaoyan LI
Author Information
1. Department of Echocardiography, Beijing Anzhen Hospital Affiliated to Capital Medical University, Beijing 100029, China. xiaoyanli82@163.com.
- Publication Type:Journal Article
- MeSH:
China;
Echocardiography;
Humans;
Loeys-Dietz Syndrome/genetics*;
Mutation;
Pedigree;
Receptor, Transforming Growth Factor-beta Type I/genetics*;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(12):1220-1223
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a patient with aortic root aneurysm and valve insufficiency.
METHODS:The patient was subjected to whole exome sequencing (WES) with a focus on the analysis of genes related to aortic aneurysm and other genetic diseases involving the cardiovascular system. Suspected pathogenic site was validated by Sanger sequencing of the patient and his family members.
RESULTS:WES has revealed a heterozygous c.830T>C variant (NM_001130916.3) in the patient, which was not detected among healthy members of his family. SIFT, PolyPhen2 and Mutation Taster predicted the variant to be disease causing, resulting in destruction of the structure and function of the TGFBR1 protein. Based on the American College of Medical Genetics and Genomics (ACMG) guidelines, the variant was predicted to be likely pathogenic (PM1+PM2+PM6+PP3+PP4).
CONCLUSION:The c.830T>C variant of the TGFBR1 gene probably underlay the disease in the proband. Above finding has enriched the spectrum of TGFBR1 gene variants in Chinese population.
