A novel compound heterozygous variant in NBAS causing bone fragility by the type of osteogenesis imperfecta

Abstract

Here, we describe a case of a 6-year-old Yakut girl who presented with clinical signs of SOPH syndrome, acute liver failure (ALF) and bone fragility by the type of osteogenesis imperfecta. Targeted panel sequencing for 494 genes of connective tissue diseases of the patient revealed that he carried novel compound heterozygous missense mutation in NBAS, c.2535G>T (p.Trp845Cys), с.5741G>A (p.Arg1914His).