Osteogenesis Imperfecta (OI) Gene Panel
Dr. rer. nat. Christoph Marschall
OI or brittle bone disease (frequency 1 in 10,000) is a clinical and genetic heterogeneous group of diseases characterized by increased brittleness of the bones. Apart from some very rare special types, inheritance is autosomal dominant. Mutations causing the disease are detected in the genes COL1A1 and COL1A2 in approx. 90% of all cases. Frequently, they lead to substitution of glycine in the triple helical domain of the type I collagen. The severity of the clinical signs and symptoms depends on the affected gene as wells as type and location of the mutation (genotype-phenotype correlation). The rare forms of OI, usually of autosomal recessive inheritance, are frequently characterized by certain clinical features. According to international guidelines, the analysis of these genes is currently recommended only after profound clinical evaluation. In patients that may be affected by a rare form of OI based on clinical symptoms and unknown or recessive inheritance pattern, a comprehensive analysis of all OI associated genes by next generation sequencing (NGS) may be useful.
All coding exons and their flanking intronic sequences from the genes in the osteogenesis imperfecta gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).