Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P. L. Marsh , Delphine Héron (1, 2) , Timothy J. Edwards , Angélique Quartier (3) , Charles Galea , Caroline Nava (1, 4) , Agnès Rastetter (4) , Marie-Laure Moutard (5) , Vicki Anderson , Pierre Bitoun (6) , Jens Bunt , Anne Faudet (1) , Catherine Garel (5) , Greta Gillies , Ilan Gobius , Justine Guegan (4) , Solveig Heide (2) , Boris Keren (1, 4) , Fabien Lesne (1) , Vesna Lukic , Simone A. Mandelstam , George Mcgillivray , Alissandra Mcilroy , Aurélie Méneret (4) , Cyril Mignot (1) , Laura R. Morcom , Sylvie Odent (7, 8) , Annalisa Paolino , Kate Pope , Florence Riant , Gail A. Robinson , Megan Spencer-Smith , Myriam Srour , Sarah E. M. Stephenson , Rick Tankard , Oriane Trouillard (4) , Quentin Welniarz (9, 4) , Amanda Wood , Alexis Brice (4) , Guy Rouleau (10) , Tania Attie-Bitach (11, 12) , Martin B. Delatycki , Jean-Louis Mandel (13, 3, 14) , David J. Amor , Emmanuel Roze (4, 1) , Amélie Piton (15, 3) , Melanie Bahlo (16) , Thierry Billette de Villemeur (17) , Elliott H. Sherr , Richard J. Leventer , Linda J. Richards , Paul J. Lockhart , Christel Depienne (1, 4, 3)

1 CHU Pitié-Salpêtrière [AP-HP]
2 GRC 9 - Groupe de Recherche Clinique : Génétique des Déficiences Intellectuelles de Causes Rares (associées ou non aux Troubles du Spectre Autistique)
3 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
4 ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute
5 CHU Trousseau [APHP]
6 Service de Pédiatrie [Jean Verdier]
7 IGDR - Institut de Génétique et Développement de Rennes
8 Service de génétique clinique [Rennes]
9 NPS - Neuroscience Paris Seine
10 Montreal Neurological Hospital
11 Hôpital Necker - Enfants Malades [AP-HP]
12 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
13 Laboratoire de Diagnostic Génétique
14 CdF (institution) - Collège de France
15 Laboratoire de Génétique Moléculaire [CHRU Strasbourg]
16 Bioinformatics division
17 PROTECT - Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

Domains: Genetics

Ashley P. L. Marsh, Delphine Héron, Timothy J. Edwards, Angélique Quartier, Charles Galea, et al.. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩. ⟨hal-01502133⟩