Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI

ABSTRACT

Osteogenesis imperfecta type VI is a rare genetic disorder caused by biallelic disease-causing variants in SERPINF1. The phenotype is characterized by severe osteopenia, recurrent fractures, and moderate to severe skeletal deformities. We report an 11-year-old individual who presented with multiple fractures of the long bones of the upper and lower extremities, severe osteopenia, and skeletal deformities. Whole exome sequencing revealed compound heterozygous variants c.[-37C>A];[829_831del] in SERPINF1. To determine the functional consequence of the variants, quantitative real-time PCR and immunoblotting analyses in patient-derived fibroblasts were performed, which showed reduced expression of SERPINF1 transcript and protein levels.