De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

Journal of Medical Genetics

Volumn 47, Issue 2, 2010, Pages 137-141

  Heron, Sarah E ^a,b   Scheffer, Ingrid E ^c   Iona, Xenia ^a   Zuberi, Sameer M ^d   Birch, Rachael ^d   McMahon, Jacinta M ^c   Bruce, Carla M ^c   Berkovic, Samuel F ^c   Mulley, John C ^a,b,e  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^e UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DNA METHYLATION; DRAVET SYNDROME; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; INFANTILE SPASM; MAJOR CLINICAL STUDY; MALE; MITOSIS; MUTAGENESIS; OOCYTE DEVELOPMENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCN1A GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS;

ADULT; EPILEPSIES, MYOCLONIC; FATHERS; FEMALE; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; SODIUM CHANNELS; SYNDROME;

EID: 77349107438     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.065912     Document Type: Article

References (30)

1. Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 4th edn. Mountrouge: John Libbey Eurotext Ltd, 2005:89-113.
2. Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, Scheffer IE, Berkovic SF. Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology 2006;67:2224-6.
3. Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A, Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007;130:843-52.
4. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68:1327- 32.
5. Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. SCN1A mutations and epilepsy. Hum Mutat 2005;25:535-42.
6. Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia 2007;48:1678-85.
7. Madia F, Striano P, Gennaro E, Malacarne M, Paravidino R, Biancheri R, Budetta M, Cilio MR, Gaggero R, Pierluigi M, Minetti C, Zara F. Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology 2006;67:1230-5.
8. Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology 2006;67:1094-5.
9. Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. Hum Mutat 2006;27:914-20.
10. Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF. Neuronal sodium-channe α1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001;68:859-65.
11. Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AO. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 1996;13:48-53.
12. Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 2000;66:768-77.
13. Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO. Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. Hum Genet 2004;115:200-7.
14. Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 1998;63:711-16.
15. Girard M, Couvert P, Carrié A, Tardieu M, Chelly J, Beldjord C, Bienvenu T. Parental origin of de novo mutations in Rett syndrome. Eur J Hum Genet 2001;9:231-6.
16. Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F, Engel W. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet 2001;68:1093-101.
17. Ljung RC, Sjörin E. Origin of mutation in sporadic cases of haemophilia A. Br J Haematol 1999;106:870-4.
18. Jadayel D, Fain P, Upadhyaya M, Ponder MA, Huson SM, Carey J, Fryer A, Mathew CG, Barker DF, Ponder BA. Parental origin of new mutations in von Recklinghausen neurofibromatosis. Nature 1990;343:558-9.
19. Edghill EL, Gloyn AL, Goriely A, Harries LW, Flanagan SE, Rankin J, Hattersley AT, Ellard S. Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. J Clin Endocrinol Metab 2007;92:1773-7.
20. Glaser RL, Ramsay JP, Morison IM. The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations. Nucleic Acids Res 2006;34:D29-31.
21. Richards FM, Payne SJ, Zbar B, Affara NA, Ferguson-Smith MA, Maher ER. Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. Hum Mol Genet 1995;4:2139-43.
22. Roberts PS, Chung J, Jozwiak S, Dabora SL, Franz DN, Thiele EA, Kwiatkowski DJ. SNP identification, haplotype analysis, and parental origin of mutations in TSC2. Hum Genet 2002;111:96-101.
23. Green PM, Saad S, Lewis CM, Giannelli F. Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B. Am J Hum Genet 1999;65:1572-9.
24. Ketterling RP, Vielhaber E, Li X, Drost J, Schaid DJ, Kasper CK, Phillips JA 3rd, Koerper MA, Kim H, Sexauer C, Gruppo R, Ambriz R, Paredes R, Sommer SS. Germline origins in the human F9 gene: frequent G: C→A: T mosaicism and increased mutations with advanced maternal age. Hum Genet 1999;105:629-40.
25. Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE. Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 2003;61:765-9.
26. Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009;50:1670-8.
27. Marini C, Mei D, Cross JH, Guerrini R. Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia 2006;47:1737-40.
28. Morimoto M, Mazaki E, Nishimura A, Chiyonobu T, Sawai Y, Murakami A, Nakamura K, Inoue I, Ogiwara I, Sugimoto T, Yamakawa K. SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia 2006;47:1732-6.
29. Crow JF. Age and sex effects on human mutation rates: an old problem with new complexities. J Radiat Res 2006;47:B75-82.
30. Driscoll DJ, Migeon BR. Sex difference in methylation of single-copy genes in human meiotic germ cells: implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations. Somat Cell Mol Genet 1990;16:267-82.