Article
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Human mutation - 1 Jan 2018
Marsh Ashley P L, Edwards Timothy J, Galea Charles, Cooper Helen M, Engle Elizabeth C, Jamuar Saumya S, Méneret Aurélie, Moutard Marie-Laure, Nava Caroline, Rastetter Agnès, Robinson Gail, Rouleau Guy, Roze Emmanuel, Spencer-Smith Megan, Trouillard Oriane, Billette de Villemeur Thierry, Walsh Christopher A, Yu Timothy W, Heron Delphine, Sherr Elliott H, Richards Linda J, Depienne Christel, Leventer Richard J, Lockhart Paul J
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Agenesis of Corpus Callosum
- Amino Acid Sequence
- Binding Sites
- Conserved Sequence
- Databases, Genetic
- Genes, DCC
- Genetic Association Studies