DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

doi:10.1002/humu.23361

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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...

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Identifiers

PMID: 29068161
DOI: 10.1002/humu.23361
PMCID: PMC5722687

Genes

DCC
NTN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.PMID 29068161Read ↗

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A human DCC variant causing mirror movement disorder reveals an essential role for the Wave regulatory complex in Netrin/DCC signalingSemantic proximity Read ↗

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.Semantic proximity Read ↗

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Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected IndividualsSemantic proximity Read ↗

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Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.Semantic proximity Read ↗

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