Biallelic mutations in human DCC cause developmental split-brain syndrome.

doi:10.1038/ng.3804

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Article

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Nature genetics - 1 Apr 2017

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

Abstract excerpt

Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic...

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PMID: 28250456
DOI: 10.1038/ng.3804
PMCID: PMC5374027

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