학술논문
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability
Document Type
Academic Journal
Author
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; Caignec, Cédric Le; 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
Source
Human Mutation. Apr 01, 2016 37(4):354-358
Subject
Language
English
ISSN
1059-7794
Abstract
By trio-based whole-exome sequencing in six unrelated non-consanguineous families we identified a syndromic form of intellectual disability with impaired speech caused by de novo truncating mutations in CHAMP1. This gene encodes a protein involved in microtubule-kinetochore attachment, whose mutations induce its delocalization from chromatin and its inability to bind to its direct partners, POGZ and HP1.