Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress

ABSTRACT: Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collagen processing. We identified a homozygous missense mutation in SEC16B in a child with vertebral fractures, leg bowing, short stature, muscular hypotonia and bone densitometric and histomorphometric features in keeping with OI with distinct ultrastructural features. In line with the putative function of SEC16B as a regulator of trafficking between the ER and the Golgi complex, we showed that patient fibroblasts accumulated type I procollagen in the ER and exhibited a general trafficking defect at the level of the ER. Consequently, patient fibroblasts exh

SUBMITTER: Dr. Ahmed El-Gazzar 

PROVIDER: S-SCDT-10_15252-EMMM_202216834 | biostudies-other |

REPOSITORIES: biostudies-other