Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing.

ABSTRACT: Aortopathy represents an important cause of mortality in industrialized countries, with a number of genes identified as predispose factors. It can be difficult to identify the genetic lesions underlying this disorder, particularly when the phenotype is atypical. The present study performed targeted next‑generation sequencing of 428 genes associated with cardiovascular diseases in a family with aortopathy, the proband of which presented with abdominal aortic aneurysm rupture only, with tissue fragility noted in surgery. After targeted capture, sequencing and bioinformatics analysis, a missense mutation, p.A1259T, was identified in the collagen type III α1 (COL3A1) gene and co‑segregated with the disease in the family. Crystal structure modeling revealed abnormal hydrogen bonds generated by

SUBMITTER: Zhang W 

PROVIDER: S-EPMC5364830 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature