Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation.

ABSTRACT: Skeletal development throughout the embryonic and postnatal phases is a dynamic process, based on bone remodeling and the balance between the activities of osteoclasts and osteoblasts modulating skeletal homeostasis. The Notch signaling pathway is a regulator of several developmental processes, and plays a crucial role in the development of the human skeleton by regulating the proliferation and differentiation of skeletal cells. The Delta Like-1 (DLL1) gene plays an important role in Notch signaling. We propose that an identified alteration in DLL1 protein may affect the downstream signaling. In this article, we present for the first time two siblings with a mutation in the DLL1 gene, presenting with congenital vertebral malformation. Using variable in silico prediction tools, it wa

SUBMITTER: Barhoumi T 

PROVIDER: S-EPMC6593294 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature