Ontology highlight
ABSTRACT:
SUBMITTER: Poirier K
PROVIDER: S-EPMC3826256 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Poirier Karine K Lebrun Nicolas N Broix Loic L Tian Guoling G Saillour Yoann Y Boscheron Cécile C Parrini Elena E Valence Stephanie S Pierre Benjamin Saint BS Oger Madison M Lacombe Didier D Geneviève David D Fontana Elena E Darra Franscesca F Cances Claude C Barth Magalie M Bonneau Dominique D Bernadina Bernardo Dalla BD N'guyen Sylvie S Gitiaux Cyril C Parent Philippe P des Portes Vincent V Pedespan Jean Michel JM Legrez Victoire V Castelnau-Ptakine Laetitia L Nitschke Patrick P Hieu Thierry T Masson Cecile C Zelenika Diana D Andrieux Annie A Francis Fiona F Guerrini Renzo R Cowan Nicholas J NJ Bahi-Buisson Nadia N Chelly Jamel J
Nature genetics 20130421 6
The genetic causes of malformations of cortical development (MCD) remain largely unknown. Here we report the discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD. We found a frequent recurrence of mutations in DYNC1H1, implying that this gene is a major locus for unexplained MCD. We further show that the mutations in KIF5C, KIF2A and DYNC1H1 affect ATP hydrolysis, productive protein folding an ...[more]