Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

American Journal of Human Genetics

Volumn 94, Issue 6, 2014, Pages 891-897

  Perrault, Isabelle ^a,b   Hamdan, Fadi F ^c   Rio, Marlène ^b,d   Capo Chichi, José Mario ^c   Boddaert, Nathalie ^d   Décarie, Jean Claude ^e   Maranda, Bruno ^f   Nabbout, Rima ^b   Sylvain, Michel ^g   Lortie, Anne ^c   Roux, Philippe P ^h   Rossignol, Elsa ^c   Gérard, Xavier ^a,b   Barcia, Giulia ^b   Berquin, Patrick ⁱ   Munnich, Arnold ^b,d   Rouleau, Guy A ^j   Kaplan, Josseline ^a,b   Rozet, Jean Michel ^a,b   Michaud, Jacques L ^c  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITY OF MONTREAL   (Canada)

^f CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^g LAVAL UNIVERSITY   (Canada)

^h INSTITUTE FOR RESEARCH IN IMMUNOLOGY AND CANCER   (Canada)

ⁱ AMIENS UNIVERSITY HOSPITAL   (France)

^j MCGILL UNIVERSITY   (Canada)

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Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR; ANTICONVULSIVE AGENT; CARBOXYLIC ACID; CDKL5 PROTEIN; DOCK7 PROTEIN; GENOMIC DNA; GUANINE NUCLEOTIDE EXCHANGE FACTOR; METHYL CPG BINDING PROTEIN 2; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CEREBRAL BLINDNESS; CHILD; COMPLEX PARTIAL SEIZURE; DOCK7 GENE; DROP ATTACK; ELECTROENCEPHALOGRAPHY; EXOME; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; INTERNEURON; INTRACTABLE EPILEPSY; LENNOX GASTAUT SYNDROME; MICROARRAY ANALYSIS; MYOCLONUS; NERVE CELL DIFFERENTIATION; NEUROIMAGING; OCCIPITAL LOBE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PYRAMIDAL NERVE CELL; TONIC SEIZURE; AMINO ACID BLOOD LEVEL; ANTEVERTED NOSTRIL; ANTHROPOMETRIC PARAMETERS; AORTA SUPRAVALVULAR STENOSIS; ATROPHY; ATTENTION DISTURBANCE; AUTISM; BRAIN DISEASE; CHROMATOGRAPHY; CORPUS CALLOSUM; DELIVERY; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; EPILEPTIC ENCEPHALOPATHY; EYE EXAMINATION; FACIES; FAMILY ASSESSMENT; FOCAL EPILEPSY; GABAERGIC SYSTEM; GENERALIZED EPILEPSY; HAPPY PUPPET SYNDROME; HEART MURMUR; HOMOZYGOTE; HYPOPLASIA; KARYOTYPING; KETOGENIC DIET; MEDICAL HISTORY; MITRAL VALVE; MORPHOLOGICAL TRAIT; MOTOR PERFORMANCE; MYOCLONUS SEIZURE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; POLARIZATION; PREGNANCY; SCHOOL CHILD; SIBLING; TELECANTHUS; TERM BIRTH; URINALYSIS;

BLINDNESS, CORTICAL; CHILD; CHILD, PRESCHOOL; EPILEPSIES, MYOCLONIC; EPILEPSY; EXOME; FEMALE; GENES, RECESSIVE; GTPASE-ACTIVATING PROTEINS; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SPASMS, INFANTILE;

EID: 84902283646     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.04.012     Document Type: Article

References (13)

1. A.T. Berg, S.F. Berkovic, M.J. Brodie, J. Buchhalter, J.H. Cross, W. van Emde Boas, J. Engel, J. French, T.A. Glauser, and G.W. Mathern et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009 Epilepsia 51 2010 676 685
2. A.S. Allen, S.F. Berkovic, P. Cossette, N. Delanty, D. Dlugos, E.E. Eichler, M.P. Epstein, T. Glauser, D.B. Goldstein, Y. Han Epi4K Consortium Epilepsy Phenome/Genome Project De novo mutations in epileptic encephalopathies Nature 501 2013 217 221
3. K. Wang, M. Li, and H. Hakonarson ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res. 38 2010 e164
4. Y.T. Yang, C.L. Wang, and L. Van Aelst DOCK7 interacts with TACC3 to regulate interkinetic nuclear migration and cortical neurogenesis Nat. Neurosci. 15 2012 1201 1210
5. J.F. Côté, and K. Vuori GEF what? Dock180 and related proteins help Rac to polarize cells in new ways Trends Cell Biol. 17 2007 383 393
6. M. Watabe-Uchida, K.A. John, J.A. Janas, S.E. Newey, and L. Van Aelst The Rac activator DOCK7 regulates neuronal polarity through local phosphorylation of stathmin/Op18 Neuron 51 2006 727 739
7. J. Yamauchi, Y. Miyamoto, J.R. Chan, and A. Tanoue ErbB2 directly activates the exchange factor Dock7 to promote Schwann cell migration J. Cell Biol. 181 2008 351 365
8. O. Isken, and L.E. Maquat Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function Genes Dev. 21 2007 1833 1856
9. Y. Tai, J.A. Janas, C.L. Wang, and L. Van Aelst Regulation of chandelier cell cartridge and bouton development via DOCK7-mediated ErbB4 activation Cell Rep. 6 2014 254 263
10. L. Backx, B. Ceulemans, J.R. Vermeesch, K. Devriendt, and H. Van Esch Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4 Eur. J. Hum. Genet. 17 2009 378 382
11. J. Kasnauskiene, Z. Ciuladaite, E. Preiksaitiene, A. Utkus, A. Peciulyte, and V. Kučinskas A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability Am. J. Med. Genet. A. 161A 2013 1487 1490
12. A.L. Blasius, K. Brandl, K. Crozat, Y. Xia, K. Khovananth, P. Krebs, N.G. Smart, A. Zampolli, Z.M. Ruggeri, and B.A. Beutler Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function Proc. Natl. Acad. Sci. USA 106 2009 2706 2711
13. C. Le Magueresse, and H. Monyer GABAergic interneurons shape the functional maturation of the cortex Neuron 77 2013 388 405