Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Genetics in Medicine

Volumn 14, Issue 10, 2012, Pages 868-876

  Campbell, Ian M ^a   Yatsenko, Svetlana A ^a,m   Hixson, Patricia ^a   Reimschisel, Tyler ^b   Thomas, Matthew ^c   Wilson, William ^c   Dayal, Usha ^d   Wheless, James W ^e   Crunk, Amy ^f   Curry, Cynthia ^g   Parkinson, Nicole ^h   Fishman, Leona ^h   Riviello, James J ⁱ   Nowaczyk, Malgorzata J M ^j   Zeesman, Susan ^j   Rosenfeld, Jill A ^k   Bejjani, Bassem A ^k   Shaffer, Lisa G ^k   Cheung, Sau Wai ^a   Lupski, James R ^a,l   Stankiewicz, Pawel ^a   Scaglia, Fernando ^a,l   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF VIRGINIA   (United States)

^d Carolina Neurological Clinic   (United States)

^e UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^f Shodair Hospital   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^j MCMASTER UNIVERSITY   (Canada)

^k PERKINELMER INC   (United States)

^l TEXAS CHILDREN S HOSPITAL   (United States)

^m UNIVERSITY OF PITTSBURGH   (United States)

more..

Author keywords

cisgenetics; dystonia; early infantile epileptic encephalopathy; hereditary hemorrhagic telangiectasia; intellectual disability

Indexed keywords

ADOLESCENT; ARTICLE; BRAIN DISEASE; CHILD; CHROMOSOME 9Q; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DYSTONIA; ENG GENE; EPILEPSY; FEMALE; GENE; GENE DELETION; HUMAN; INFANTILE EPILEPTIC ENCEPHALOPATHY; INFANTILE SPASM; MALE; MYELIN DEFICIENCY; PRESCHOOL CHILD; RENDU OSLER WEBER DISEASE; SCHOOL CHILD; SPTAN1 GENE; STXBP1 GENE; TOR1A GENE;

ABNORMALITIES, MULTIPLE; ANTIGENS, CD; CARRIER PROTEINS; CHILD; CHROMOSOMES, HUMAN, PAIR 9; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DELETION; HAPLOINSUFFICIENCY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; MICROFILAMENT PROTEINS; MOLECULAR CHAPERONES; MUNC18 PROTEINS; POLYMERASE CHAIN REACTION; RECEPTORS, CELL SURFACE; SPASMS, INFANTILE;

EID: 84866320883     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.65     Document Type: Article

References (40)

1. Molinari F, Raas-Rothschild A, Rio M, et al. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet 2005;76:334-339.
2. Ohtahara S, Ohtsuka Y, Yamatogi Y, Oka E. The early-infantile epileptic encephalopathy with suppression-burst: developmental aspects. Brain Dev 1987;9:371-376.
3. Zupanc ML. Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood. J Child Neurol 2009;24(8 Suppl):6S-14S.
4. Ohtahara S, Yamatogi Y. Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol 2003;20:398-407.
5. Strømme P, Mangelsdorf ME, Shaw MA, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002;30:441-445.
6. Weaving LS, Christodoulou J, Williamson SL, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004;75:1079-1093.
7. Kato M, Saitoh S, Kamei A, et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 2007;81:361-366.
8. Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008;40:782-788.
9. Saitsu H, Osaka H, Sugiyama S, et al. Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). Am J Med Genet A 2011; e-pub ahead of print.
10. Mignot C, Moutard ML, Trouillard O, et al. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia 2011;52:1820-1827.
11. Saitsu H, Kato M, Shimono M, et al. Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. Clin Genet 2012;81:399-402.
12. Otsuka M, Oguni H, Liang JS, et al. STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-result of Japanese cohort study. Epilepsia 2010;51:2449-2452.
13. Saitsu H, Kato M, Okada I, et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia 2010;51:2397-2405.
14. Milh M, Villeneuve N, Chouchane M, et al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia 2011;52:1828-1834.
15. Hamdan FF, Piton A, Gauthier J, et al. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Ann Neurol 2009;65: 748-753.
16. Deprez L, Weckhuysen S, Holmgren P, et al. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology 2010;75:1159-1165.
17. Hamdan FF, Gauthier J, Dobrzeniecka S, et al. Intellectual disability without epilepsy associated with STXBP1 disruption. Eur J Hum Genet 2011;19: 607-609.
18. Schulze KL, Littleton JT, Salzberg A, et al. rop, a Drosophila homolog of yeast Sec1 and vertebrate n-Sec1/Munc-18 proteins, is a negative regulator of neurotransmitter release in vivo. Neuron 1994;13:1099-1108.
19. Burkhardt P, Hattendorf DA, Weis WI, Fasshauer D. Munc18a controls SNARE assembly through its interaction with the syntaxin N-peptide. EMBO J 2008;27:923-933.
20. Hata Y, Slaughter CA, Südhof TC. Synaptic vesicle fusion complex contains unc-18 homologue bound to syntaxin. Nature 1993;366:347-351.
21. Saitsu H, Hoshino H, Kato M, et al. Paternal mosaicism of an STXBP1 mutation in OS. Clin Genet 2011;80:484-488.
22. Gilman SR, Iossifov I, Levy D, Ronemus M, Wigler M, Vitkup D. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 2011;70:898-907.
23. Pinto D, Pagnamenta AT, Klei L, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466:368-372.
24. Schaaf CP, Zoghbi HY. Solving the autism puzzle a few pieces at a time. Neuron 2011;70:806-808.
25. Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA. Clan genomics and the complex architecture of human disease. Cell 2011;147:32-43.
26. Shen HM, Storb U. Activation-induced cytidine deaminase (AID) can target both DNA strands when the DNA is supercoiled. Proc Natl Acad Sci USA 2004;101:12997-13002.
27. Kanazawa K, Kumada S, Kato M, Saitsu H, Kurihara E, Matsumoto N. Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene. Mov Disord 2010;25:2265-2267.
28. Crutcher MD, Alexander GE. Movement-related neuronal activity selectively coding either direction or muscle pattern in three motor areas of the monkey. J Neurophysiol 1990;64:151-163.
29. Saitsu H, Tohyama J, Kumada T, et al. Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet 2010;86:881-891.
30. Voas MG, Lyons DA, Naylor SG, Arana N, Rasband MN, Talbot WS. alphaIIspectrin is essential for assembly of the nodes of Ranvier in myelinated axons. Curr Biol 2007;17:562-568.
31. Ogawa Y, Rasband MN. The functional organization and assembly of the axon initial segment. Curr Opin Neurobiol 2008;18:307-313.
32. Shoukier M, Teske U, Weise A, Engel W, Argyriou L. Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia. Clin Genet 2008;73:320-330.
33. Wooderchak W, Gedge F, McDonald M, et al. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family. Clin Genet 2010;78:484-489.
34. Mei-Zahav M, Letarte M, Faughnan ME, Abdalla SA, Cymerman U, MacLusky IB. Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience. Arch Pediatr Adolesc Med 2006;160:596-601.
35. Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48.
36. Risch N, de Leon D, Ozelius L, et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995;9:152-159.
37. Goodchild RE, Kim CE, Dauer WT. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 2005;48:923-932.
38. Risch NJ, Bressman SB, Senthil G, Ozelius LJ. Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 2007;80:1188-1193.
39. Huang N, Lee I, Marcotte EM, Hurles ME. Characterising and predicting haploinsufficiency in the human genome. PLoS Genet 2010;6:e1001154.
40. Weterman MA, Sorrentino V, Kasher PR, et al. A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. Hum Mol Genet 2012;21:358-370.