Article
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Human mutation - 1 Apr 2016
Isidor Bertrand, Küry Sébastien, Rosenfeld Jill A, Besnard Thomas, Schmitt Sébastien, Joss Shelagh, Davies Sally J, Lebel Robert Roger, Henderson Alex, Schaaf Christian P, Streff Haley E, Yang Yaping, Jain Vani, Chida Nodoka, Latypova Xenia, Le Caignec Cédric, Cogné Benjamin, Mercier Sandra, Vincent Marie, Colin Estelle, Bonneau Dominique, Denommé Anne-Sophie, Parent Philippe, Gilbert-Dussardier Brigitte, Odent Sylvie, Toutain Annick, Piton Amélie, Dina Christian, Donnart Audrey, Lindenbaum Pierre, Charpentier Eric, Redon Richard, Iemura Kenji, Ikeda Masanori, Tanaka Kozo, Bézieau Stéphane
Abstract excerpt
A rare syndromic form of intellectual disability with impaired speech was recently found associated with mutations in CHAMP1 (chromosome alignment-maintaining phosphoprotein 1), the protein product of which is directly involved in microtubule-kinetochore attachment. Through whole-exome sequencing in six unrelated nonconsanguineous families having a sporadic case of intellectual disability, we identified six novel...
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