Authors
Ashley PL Marsh, Timothy J Edwards, Charles Galea, Helen M Cooper, Elizabeth C Engle, Saumya S Jamuar, Aurélie Méneret, Marie‐Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy Rouleau, Emmanuel Roze, Megan Spencer‐Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A Walsh, Timothy W Yu, IRC5 Consortium, Delphine Heron, Elliott H Sherr, Linda J Richards, Christel Depienne, Richard J Leventer, Paul J Lockhart
Publication date
2018/1
Source
Human mutation
Volume
39
Issue
1
Pages
23-39
Description
The deleted in colorectal cancer (DCC) gene encodes the netrin‐1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense, and predicted loss‐of‐function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum (ACC), or both. Biallelic, predicted loss‐of‐function DCC mutations cause developmental split brain syndrome (DSBS). Although the underlying molecular mechanisms leading to disease remain poorly understood, they are thought to stem from reduced or perturbed NTN1 signaling. Here, we review the 26 reported DCC mutations associated with abnormal CNS development in humans, including 14 missense and 12 predicted loss‐of …
Scholar articles
APL Marsh, TJ Edwards, C Galea, HM Cooper… - Human mutation, 2018