Whole exome sequencing identified a pathogenic mutation of COL2A1 causing stickler syndrome in a Vietnamese family

Abstract

Stickler syndrome is a group of rare inherited diseases associated with abnormalities in connective tissues, specifically collagen of the eyes, ears, craniofacies, skeleton and joints. The inheritance pattern of this disease is either an autosomal dominant or an autosomal recessive based on the causative gene. Thus, our study contributes to not only the knowledge base of clinical and genetic aspects of stickler syndrome in Vietnam but also the awareness of the importance of genetic counseling in patients with COL2A1 c.C2818T mutation, as well as early diagnosis and appropriate treatment to prevent serious complications, especially blindness.