Clinical characteristics and genetic analysis of a pedigree with vascular Ehlers-Danlos syndrome caused by a novel mutation in COL3A1 gene
10.3760/cma.j.cn114452-20231214-00358
- VernacularTitle:COL3A1基因新突变导致血管型Ehlers-Danlos综合征一家系的临床特征与遗传学分析
- Author:
Jinjie LI
1
;
Liu YANG
;
Yijuan XIN
;
Rui LI
;
Juan WANG
;
Lin ZHU
;
Lei ZHOU
;
Jiayun LIU
Author Information
1. 空军军医大学西京医院检验科，西安 710032
- Keywords:
Cardiovascular diseases;
Ehlers-Danlos syndrome, Vascular type;
Diagnosis;
Genetic testing
- From:
Chinese Journal of Laboratory Medicine
2024;47(9):1082-1085
- CountryChina
- Language:Chinese
-
Abstract:
A 27-year-old male was admitted to the Xijing Hospital in August 2018 due to unprovoked severe thoracodynia with palpitations, shortness of breath and chest tightness. Computed tomography angiography showed a type A aortic dissection. Genetic testing based on next-generation sequencing for 15 genes associated with hereditary aortic diseases and Sanger sequencing validation revealed a heterozygous missense mutation c.998G>T (p.Gly333Val) in the COL3A1 gene. Sanger sequencing verification of family members confirmed that the mutation c.998G>T co-segregated with the patient′s phenotype in this family. That mutation was classified as "likely pathogenic" according to American College of Medical Genetics and Genomics standards and guidelines for genetic variant classification. Carriers of this mutation can be definitively diagnosed with "vascular Ehlers-Danlos syndrome". After the diagnosis was clarified, symptomatic treatment was given to the patient, but the disease progressed rapidly. The patient discontinued treatment and died shortly after being discharged. In this study, we found a new variant in the COL3A1 gene, expanding the mutation spectrum of this gene.
