Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report

Abstract Introduction Ullrich congenital muscular dystrophy (UCMD) is a severe form of inherited muscle weakness at birth. Recent genetic studies discovered that different gene mutations are responsible for UCMD clinical manifestation. Case report In this study, we carried out whole exome sequencing (WES) to recognize probable defects in an Iranian boy with UCMD. We found novel disease-causing COL6α1 mutation (c.2551_2562del; p.Phe851_Arg854del), located exon35 (NM_001848.3), causing deletion has eliminated 12 bp. The WES-identified variant was confirmed by Sanger the patient and his consanguineous parents. Here, manifestations 4-year-old who presented since birth proved compound homozygous COL6A1 gene. Conclusion Our findings established detected pathogenic This first study indicating c.2551_2562 state phenotype.