New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases.

ABSTRACT:

Introduction

The Ehlers-Danlos syndrome (EDS) is a non-inflammatory, heritable connective tissue disorder divided into 13 types according to the 2017 International Classification of the Ehlers-Danlos syndromes. One of the subtypes of EDS, classical (cEDS), is characterized by joint hypermobility, skin hyperextensibility and atrophic scars, which are major criteria of cEDS.

Aim

In this study, the first in Central Eastern Europe, 44 patients were investigated. All of them were tested for COL5A1 mutations with direct DNA sequencing.

Material and methods

The study group included 44 patients of Polish origin, all of whom fulfilled criteria for the classical type of Ehlers-Danlos syndrome. Direct sequencing of the COL5A1, COL5A2 and COL1A1 c.934C>T gene

SUBMITTER: Junkiert-Czarnecka A 

PROVIDER: S-EPMC6409875 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature