Collagen VI-Related Myopathies: Genetic and Clinical Findings

Abstract

Introduction: Collagen VI-related disorders are a group of heterogeneous muscular diseases due to mutations within the COL6A1, COL6A2, and COL6A3 genes, encoding collagen VI as an essential component of the extracellular matrix. Here, we reported four patients affected by collagen VI-related disorders with genetic variants in COL6A genes. Case Presentation: After a comprehensive clinical examination, four unrelated patients with muscular dystrophy were referred for genetic counseling. Whole-exome sequencing followed by Insilco analysis was done for one affected individual from each family. The analysis of genomic data revealed four different mutations within the COL6A1, COL6A2, and COL6A3 genes in the affected individuals. Conclusions: According to the previous reports, limb-girdle muscular dystrophy is inherited as autosomal dominant, and congenital myosclerosis phenotype is inherited in an autosomal recessive manner. Carrier testing and prenatal testing are possible if pathogenic variants are recognized in an affected family member.