Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Nature Genetics

Volumn 45, Issue 7, 2013, Pages 825-830

  Carvill, Gemma L ^a   Heavin, Sinéad B ^b   Yendle, Simone C ^b   McMahon, Jacinta M ^b   O'Roak, Brian J ^c   Cook, Joseph ^a   Khan, Adiba ^a   Dorschner, Michael O ^a,d   Weaver, Molly ^a,d   Calvert, Sophie ^e   Malone, Stephen ^e   Wallace, Geoffrey ^e   Stanley, Thorsten ^f   Bye, Ann M E ^g   Bleasel, Andrew ^h   Howell, Katherine B ⁱ   Kivity, Sara ^j   Mackay, Mark T ^b,i,k   Rodriguez Casero, Victoria ^l   Webster, Richard ^m   Korczyn, Amos ⁿ   Afawi, Zaid ⁿ   Zelnick, Nathanel ^o   Lerman Sagie, Tally ^p,q   Lev, Dorit ^p   Møller, Rikke S ^q   Gill, Deepak ^m   Andrade, Danielle M ^r   Freeman, Jeremy L ^i,k   Sadleir, Lynette G ^f   Shendure, Jay ^c   Berkovic, Samuel F ^b   Scheffer, Ingrid E ^b,i,s   Mefford, Heather C ^a   more..

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY OF WASHINGTON   (United States)

^d Veterans Puget Sound Health Care System   (United States)

^e LADY CILENTO CHILDREN S HOSPITAL   (Australia)

^f UNIVERSITY OF OTAGO   (New Zealand)

^g UNIVERSITY OF NEW SOUTH WALES   (Australia)

^h UNIVERSITY OF SYDNEY   (Australia)

ⁱ ROYAL CHILDREN'S HOSPITAL   (Australia)

^j SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^k MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^l MONASH MEDICAL CENTRE   (Australia)

^m CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

ⁿ TEL AVIV UNIVERSITY   (Israel)

^o CARMEL MEDICAL CENTER   (Israel)

^p WOLFSON MEDICAL CENTER   (Israel)

^q DANISH EPILEPSY CENTRE   (Denmark)

^r UNIVERSITY OF TORONTO   (Canada)

^s FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHD2 GENE; CHILD; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SYNGAP1 GENE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EPILEPSY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; RAS GTPASE-ACTIVATING PROTEINS; YOUNG ADULT;

EID: 84879684377     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2646     Document Type: Article

References (40)

1. Berg, A.T. 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, 676-685 (2010).
2. Kamien, B.A., Cardamone, M., Lawson, J.A. & Sachdev, R. A genetic diagnostic approach to infantile epileptic encephalopathies. J. Clin. Neurosci. 19, 934-941 (2012).
3. Mefford, H.C. et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann. Neurol. 70, 974-985 (2011).
4. Heinzen, E.L. et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am. J. Hum. Genet. 86, 707-718 (2010).
5. Capelli, L.P. et al. Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. Eur. J. Med. Genet. 55, 132-134 (2012).
6. Dhamija, R. et al. Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy. Pediatr. Neurol. 45, 60-62 (2011).
7. Marfella, C.G. & Imbalzano, A.N. The Chd family of chromatin remodelers. Mutat. Res. 618, 30-40 (2007).
8. Bouazoune, K. & Kingston, R.E. Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders. Proc. Natl. Acad. Sci. USA 109, 19238-19243 (2012).
9. Rauch, A. et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380, 1674-1682 (2012).
10. Neale, B.M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012).
11. O'Roak, B.J. et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338, 1619-1622 (2012).
12. Hamdan, F.F. et al. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N. Engl. J. Med. 360, 599-605 (2009).
13. Hamdan, F.F., Gauthier, J., Rouleau, G.A. & Michaud, J.L. De novo mutations in SYNGAP1 associated with non-syndromic mental retardation. Med. Sci. (Paris) 26, 133-135 (2010).
14. Hamdan, F.F. et al. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biol. Psychiatry 69, 898-901 (2011).
15. Hamdan, F.F. et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am. J. Hum. Genet. 88, 306-316 (2011).
16. Berryer, M.H. et al. Mutations in SYNGAP1 cause intellectual disability, autism and a specific form of epilepsy by inducing haploinsufficiency. Hum. Mutat. 34, 385-394 (2013).
17. Vissers, L.E. et al. A de novo paradigm for mental retardation. Nat. Genet. 42, 1109-1112 (2010).
18. de Ligt, J. et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367, 1921-1929 (2012).
19. Thierry, G. et al. Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am. J. Med. Genet. A. 158A, 1633-1640 (2012).
20. Need, A.C. et al. Clinical application of exome sequencing in undiagnosed genetic conditions. J. Med. Genet. 49, 353-361 (2012).
21. Shen, J. et al. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat. Genet. 42, 245-249 (2010).
22. Tsai, M.H. et al. Clinical genetic study of the epilepsy-aphasia spectrum. Epilepsia 54, 280-287 (2013).
23. Escayg, A. et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 24, 343-345 (2000).
24. Oliva, M., Berkovic, S.F. & Petrou, S. Sodium channels and the neurobiology of epilepsy. Epilepsia 53, 1849-1859 (2012).
25. Ogiwara, I. et al. De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies. Neurology 73, 1046-1053 (2009).
26. Kamiya, K. et al. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J. Neurosci. 24, 2690-2698 (2004).
27. Veeramah, K.R. et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am. J. Hum. Genet. 90, 502-510 (2012).
28. Weckhuysen, S. et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann. Neurol. 71, 15-25 (2012).
29. Fujiwara, T. et al. Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126, 531-546 (2003).
30. Camprubí, C. et al. Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. Am. J. Med. Genet. A. 149A, 343-348 (2009).
31. Mills, P.B. et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum. Mol. Genet. 14, 1077-1086 (2005).
32. Heron, S.E. et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 44, 1188-1190 (2012).
33. Marco, E.J. et al. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. BMJ Case Rep. 2009, bcr06.2009.1999 (2009) Epub 2009 Jul 2.
34. Mastrangelo, M. & Leuzzi, V. Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr. Neurol. 46, 24-31 (2012).
35. Tao, H. et al. Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am. J. Hum. Genet. 88, 138-149 (2011).
36. Endele, S. et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat. Genet. 42, 1021-1026 (2010).
37. Hoppman-Chaney, N., Wain, K., Seger, P., Superneau, D. & Hodge, J. Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype. Clin. Genet. 83, 345-351 (2013).
38. Talkowski, M.E. et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am. J. Hum. Genet. 89, 551-563 (2011).
39. Zweier, M. et al. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum. Mutat. 31, 722-733 (2010).
40. Mefford, H.C. et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 6, e1000962 (2010).