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Biallelic mutations in human DCC cause developmental split-brain syndrome
- Jamuar, Saumya S;
- Schmitz-Abe, Klaus;
- D'Gama, Alissa M;
- Drottar, Marie;
- Chan, Wai-Man;
- Peeva, Maya;
- Servattalab, Sarah;
- Lam, Anh-Thu N;
- Delgado, Mauricio R;
- Clegg, Nancy J;
- Zayed, Zayed Al;
- Dogar, Mohammad Asif;
- Alorainy, Ibrahim A;
- Jamea, Abdullah Abu;
- Abu-Amero, Khaled;
- Griebel, May;
- Ward, Wendy;
- Lein, Ed S;
- Markianos, Kyriacos;
- Barkovich, A James;
- Robson, Caroline D;
- Grant, P Ellen;
- Bosley, Thomas M;
- Engle, Elizabeth C;
- Walsh, Christopher A;
- Yu, Timothy W
Published Web Location
https://doi.org/10.1038/ng.3804Abstract
Timothy Yu and colleagues report that biallelic mutations in DCC cause a developmental syndrome characterized by widespread disruption of midline-bridging neuronal commissures, including agenesis of the corpus callosum, absence of hippocampal and anterior commissures, and ventral midline brainstem malformations. Clinical manifestations include horizontal gaze palsy, mirror movements, scoliosis and intellectual disability.
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