Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to play roles in skeletal tissues through its secretion by osteoblasts, chondrocytes, and mesenchymal cells. Spondylometaphyseal dysplasias (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebral anomalies, such as scoliosis. By comparing the exomes of individuals with SMD with the radiographic appearance of “corner fractures” at metaphyses, we identified three individuals with fibronectin (FN1) variants affecting highly conserved residues.

Source: The American Journal of Human Genetics - November 2, 2017 Category: Genetics & Stem Cells Authors: Chae Syng Lee, He Fu, Nissan Baratang, Justine Rousseau, Heena Kumra, V. Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme Yamamoto, D ébora Bertola, Carlo L. Marcelis, Dorien Lugtenberg, Andrea Bartuli, Choel Kim, Julie Hoover-Fong, Nara Sobreira, Tags: Report Source Type: research