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. 2010 Apr 30;328(5978):592.
doi: 10.1126/science.1186463.

Mutations in DCC cause congenital mirror movements

Myriam Srour  1 , Jean-Baptiste Rivière, Jessica M T Pham, Marie-Pierre Dubé, Simon Girard, Steves Morin, Patrick A Dion, Géraldine Asselin, Daniel Rochefort, Pascale Hince, Sabrina Diab, Naser Sharafaddinzadeh, Sylvain Chouinard, Hugo Théoret, Frédéric Charron, Guy A Rouleau
Affiliations

Mutations in DCC cause congenital mirror movements

Myriam Srour et al. Science. .

Abstract

Mirror movements are involuntary contralateral movements that mirror voluntary ones and are often associated with defects in midline crossing of the developing central nervous system. We studied two large families, one French Canadian and one Iranian, in which isolated congenital mirror movements were inherited as an autosomal dominant trait. We found that affected individuals carried protein-truncating mutations in DCC (deleted in colorectal carcinoma), a gene on chromosome 18q21.2 that encodes a receptor for netrin-1, a diffusible protein that helps guide axon growth across the midline. Functional analysis of the mutant DCC protein from the French Canadian family revealed a defect in netrin-1 binding. Thus, DCC has an important role in lateralization of the human nervous system.

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