Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 1, 2012, Pages 199-205

  Saitsu, Hirotomo ^a   Osaka, Hitoshi ^b   Sugiyama, Shirou ^b   Kurosawa, Kenji ^b   Mizuguchi, Takeshi ^a   Nishiyama, Kiyomi ^a   Nishimura, Akira ^a   Tsurusaki, Yoshinori ^a   Doi, Hiroshi ^a   Miyake, Noriko ^a   Harada, Naoki ^c   Kato, Mitsuhiro ^d   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c LSI MEDIENCE CORPORATION   (Japan)

^d YAMAGATA UNIVERSITY   (Japan)

Author keywords

Chromosomal translocation; Early infantile epileptic encephalopathy; SRGAP2; West syndrome

Indexed keywords

GENOMIC DNA; PHENOBARBITAL; POTASSIUM BROMIDE; PYRIDOXINE; ZONISAMIDE;

ARTICLE; BRAIN CORTEX ATROPHY; CASE REPORT; CELL MIGRATION; CHILD; CHROMOSOME 1Q; CHROMOSOME BREAKAGE; CHROMOSOME G BAND; CHROMOSOME TRANSLOCATION 1; CHROMOSOME TRANSLOCATION 9; CLONIC SEIZURE; ELECTROENCEPHALOGRAPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE AMPLIFICATION; GENE DISRUPTION; GENE EXPRESSION; GENE LOCATION; GENE LOCUS; GENETIC ASSOCIATION; GENOME ANALYSIS; HETEROCHROMATIN; HUMAN; HUMAN CELL; HYPSARRHYTHMIA; INTELLECTUAL IMPAIRMENT; INVERSE POLYMERASE CHAIN REACTION; LENNOX GASTAUT SYNDROME; MOLECULAR CLONING; NERVE CELL; NERVE FIBER GROWTH; NEUROMODULATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERIPHERAL LYMPHOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEGMENTAL DUPLICATION; SLIT ROBO RHO GTPASE ACTIVATING PROTEIN 2 GENE; SOUTHERN BLOTTING; TONIC SEIZURE; WEST SYNDROME;

BASE SEQUENCE; BRAIN; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CLONING, MOLECULAR; ELECTROENCEPHALOGRAPHY; FEMALE; GTPASE-ACTIVATING PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; SEGMENTAL DUPLICATIONS, GENOMIC; SEIZURES; SPASMS, INFANTILE;

RODENTIA;

EID: 84355166478     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34363     Document Type: Article

References (28)

1. Bacon C, Endris V, Rappold G. 2009. Dynamic expression of the Slit-Robo GTPase activating protein genes during development of the murine nervous system. J Comp Neurol 513: 224-236.
2. Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J. 1998. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392: 923-926.
3. Brose K, Bland KS, Wang KH, Arnott D, Henzel W, Goodman CS, Tessier-Lavigne M, Kidd T. 1999. Slit proteins bind Robo receptors and have an evolutionarily conserved role in repulsive axon guidance. Cell 96: 795-806.
4. Chiang SH, Bazuine M, Lumeng CN, Geletka LM, Mowers J, White NM, Ma JT, Zhou J, Qi N, Westcott D, Delproposto JB, Blackwell TS, Yull FE, Saltiel AR. 2009. The protein kinase IKKepsilon regulates energy balance in obese mice. Cell 138: 961-975.
5. Djukic A, Lado FA, Shinnar S, Moshe SL. 2006. Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? Epilepsy Res 70: S68-S76.
6. Endris V, Wogatzky B, Leimer U, Bartsch D, Zatyka M, Latif F, Maher ER, Tariverdian G, Kirsch S, Karch D, Rappold GA. 2002. The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation. Proc Natl Acad Sci USA 99: 11754-11759.
7. Guerrier S, Coutinho-Budd J, Sassa T, Gresset A, Jordan NV, Chen K, Jin WL, Frost A, Polleux F. 2009. The F-BAR domain of srGAP2 induces membrane protrusions required for neuronal migration and morphogenesis. Cell 138: 990-1004.
8. Hall A. 1998. Rho GTPases and the actin cytoskeleton. Science 279: 509-514.
9. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J. 2003. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 72: 1401-1411.
10. Katagiri K, Ohnishi N, Kabashima K, Iyoda T, Takeda N, Shinkai Y, Inaba K, Kinashi T. 2004. Crucial functions of the Rap1 effector molecule RAPL in lymphocyte and dendritic cell trafficking. Nat Immunol 5: 1045-1051.
11. Kato M. 2006. A new paradigm for West syndrome based on molecular and cell biology. Epilepsy Res 70: S87-S95.
12. Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K. 2007. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 81: 361-366.
13. Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K., 2008. Genetic etiology of age-dependent epileptic encephalopathy in infancy: Longer polyalanine expansion in ARX causes earlier onset and more severe phenotype. In: Takahashi T, Fukuyama Y, editors. Biology of seizure susceptibility in developing brain. Montrouge, Paris: John Libbey Eurotext. pp. 75-86.
14. Kutsche K Yntema H Brandt A Jantke I Nothwang HG Orth U Boavida MG David D Chelly J Fryns JP Moraine C Ropers HH Hamel BC van Bokhoven H Gal A 2000 Mutations in ARHGEF6 encoding a guanine nucleotide exchange factor for Rho GTPases in patients with X-linked mental retardation Nat Genet 26: 247-250.
15. Lamarche N, Hall A. 1994. GAPs for rho-related GTPases. Trends Genet 10: 436-440.
16. Li HS, Chen JH, Wu W, Fagaly T, Zhou L, Yuan W, Dupuis S, Jiang ZH, Nash W, Gick C, Ornitz DM, Wu JY, Rao Y. 1999. Vertebrate slit, a secreted ligand for the transmembrane protein roundabout, is a repellent for olfactory bulb axons. Cell 96: 807-818.
17. Matsuzaki H, Wang PH, Hu J, Rava R, Fu GK. 2009. High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians. Genome Biol 10: R125.
18. Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L. 2005. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet 76: 334-339.
19. Nannya Y, Sanada M, Nakazaki K, Hosoya N, Wang L, Hangaishi A, Kurokawa M, Chiba S, Bailey DK, Kennedy GC, Ogawa S. 2005. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 65: 6071-6079.
20. Ohtahara S, Yamatogi Y. 2006. Ohtahara syndrome: With special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. Epilepsy Res 70: S58-S67.
21. Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. 2008. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 40: 782-788.
22. Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gecz J. 2002. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 30: 441-445.
23. Tenoever BR, Ng SL, Chua MA, McWhirter SM, Garcia-Sastre A, Maniatis T. 2007. Multiple functions of the IKK-related kinase IKKepsilon in interferon-mediated antiviral immunity. Science 315: 1274-1278.
24. Triglia T, Peterson MG, Kemp DJ. 1988. A procedure for in vitro amplification of DNA segments that lie outside the boundaries of known sequences. Nucleic Acids Res 16: 8186.
25. Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J. 2004. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75: 1079-1093.
26. Wong K, Ren XR, Huang YZ, Xie Y, Liu G, Saito H, Tang H, Wen L, Brady-Kalnay SM, Mei L, Wu JY, Xiong WC, Rao Y. 2001. Signal transduction in neuronal migration: Roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway. Cell 107: 209-221.
27. Wu W, Wong K, Chen J, Jiang Z, Dupuis S, Wu JY, Rao Y. 1999. Directional guidance of neuronal migration in the olfactory system by the protein Slit. Nature 400: 331-336.
28. Yao Q, Jin W-L, Wang Y, Ju G. 2008. Regulated shuttling of Slit-Robo-GTPase activating proteins between nucleus and cytoplasm during brain development. Cell Mol Neurobiol 28: 205-221.