Erratum: De novo point mutations in patients diagnosed with ataxic cerebral palsy. (Brain (2015) 138 1817-1832 DOI:10.1093/brain/awv117);De novo point mutations in patients diagnosed with ataxic cerebral palsy

Brain

Volumn 138, Issue 7, 2015, Pages 1817-1832

  Parolin Schnekenberg, Ricardo ^a,b   Perkins, Emma M ^c   Miller, Jack W ^d   Davies, Wayne I L ^d,e,f   D'Adamo, Maria Cristina ^f   Pessia, Mauro ^f,g   Fawcett, Katherine A ^h   Sims, David ^h   Gillard, Elodie ^d   Hudspith, Karl ^d   Skehel, Paul ^c   Williams, Jonathan ⁱ   O'Regan, Mary ^j   Jayawant, Sandeep ^d   Jefferson, Rosalind ^k   Hughes, Sarah ^k   Lustenberger, Andrea ^l   Ragoussis, Jiannis ^a,m   Jackson, Mandy ^c   Tucker, Stephen J ^h   Németh, Andrea H ^d,i   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b POSITIVO UNIVERSITY   (Brazil)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f UNIVERSITY OF PERUGIA   (Italy)

^g PENN STATE COLLEGE OF MEDICINE   (United States)

^h UNIVERSITY OF OXFORD   (United Kingdom)

ⁱ CHURCHILL HOSPITAL   (United Kingdom)

^j ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^k ROYAL BERKSHIRE HOSPITAL   (United Kingdom)

^l UNIVERSITY OF BERN   (Switzerland)

^m MCGILL UNIVERSITY   (Canada)

more..

Author keywords

ataxia; cerebral palsy; de novo; intellectual disability

Indexed keywords

INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR 1; PEPTIDES AND PROTEINS; POTASSIUM CHANNEL KCNC3; SPECTRIN BETA NON ERYTHROCYTIC 2; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL; ITPR1 PROTEIN, HUMAN; KCNC3 PROTEIN, HUMAN; SHAW POTASSIUM CHANNEL; SPECTRIN; SPTBN2 PROTEIN, HUMAN;

ARTICLE; ATAXIA; ATAXIC CEREBRAL PALSY; BIOINFORMATICS; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CEREBRAL PALSY; CHILD; CONTROLLED STUDY; FEMALE; HUMAN; IN VITRO STUDY; MALE; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATERNAL AGE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; DNA SEQUENCE; GENETIC DISORDER; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; NEWBORN; NUCLEOTIDE SEQUENCE; PATCH CLAMP TECHNIQUE;

ATAXIA; BASE SEQUENCE; CEREBRAL PALSY; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GENETIC DISEASES, INBORN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTORS; MALE; PATCH-CLAMP TECHNIQUES; POINT MUTATION; SEQUENCE ANALYSIS, DNA; SHAW POTASSIUM CHANNELS; SPECTRIN;

EID: 84936791616     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv309     Document Type: Erratum

References (91)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-9.
2. Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, et al. De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217-21.
3. Ando H, Mizutani A, Kiefer H, Tsuzurugi D, Michikawa T, Mikoshiba K. IRBIT suppresses IP3 receptor activity by competing with IP3 for the common binding site on the IP3 receptor. Mol Cell 2006; 22: 795-806.
4. Bauer P, Schols L, Riess O. Spectrin mutations in spinocerebellar ataxia (SCA). Bioessays 2006; 28: 785-7.
5. Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson K, et al. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am J Hum Genet 2012; 91: 548-52.
6. Burns R, Majczenko K, Xu J, Peng W, Yapici Z, Dowling JJ, et al. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology 2014; 83: 2175-82.
7. Castrioto A, Prontera P, Di Gregorio E, Rossi V, Parnetti L, Rossi A, et al. A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline. Eur J Neurol 2011; 18: 1263-5.
8. Cingolani P, Patel VM, Coon M, Nguyen T, Land SJ, Ruden DM, et al. Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift. Front Genet 2012; 3: 35.
9. Clarkson YL, Gillespie T, Perkins EM, Lyndon AR, Jackson M. Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. Hum Mol Genet 2010; 19: 3634-41.
10. Clarkson YL, Perkins EM, Cairncross CJ, Lyndon AR, Skehel PA, Jackson M. beta-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations. Hum Mol Genet 2014; 23: 3875-82.
11. Colver A, Fairhurst C, Pharoah PO. Cerebral palsy. Lancet 2014; 383: 1240-9.
12. Cooper GM, Stone EA, Asimenos G, Green ED, Batzoglou S, Sidow A. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 2005; 15: 901-13.
13. Costeff H, Cohen BE, Weller L. Relative importance of genetic and nongenetic etiologies in idiopathic mental retardation: estimates based on analysis of medical histories. Ann Hum Genet 1983; 47: 83-93.
14. Costeff H. Estimated frequency of genetic and nongenetic causes of congenital idiopathic cerebral palsy in west Sweden. Ann Hum Genet 2004; 68: 515-20.
15. D'Adamo MC, Liu Z, Adelman JP, Maylie J, Pessia M. Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. EMBO J 1998; 17: 1200-7.
16. Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, et al. The variant call format and VCFtools. Bioinformatics 2011; 27: 2156-8.
17. Davies WI, Downes SM, Fu JK, Shanks ME, Copley RR, Lise S, et al. Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin. Genet Med 2012; 14: 891-9.
18. Davies WL, Carvalho LS, Hunt DM. SPLICE: a technique for generating in vitro spliced coding sequences from genomic DNA. BioTechniques 2007; 43: 785-9.
19. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012; 367: 1921-9.
20. de Ligt J, Veltman JA, Vissers, LE, Point mutations as a source of de novo genetic disease. Curr Opin Genet Dev 2013; 23: 257-63.
21. Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, et al. Exome sequencing reveals a homozygous SYT14 mutation in adultonset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet 2011; 89: 320-7.
22. Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, et al. Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. Eur J Hum Genet 2014; 22: 286-8.
23. Figueroa KP, Minassian NA, Stevanin G, Waters M, Garibyan V, Forlani S, et al. KCNC3: phenotype, mutations, channel biophysics-A study of 260 familial ataxia patients. Hum Mutat 2010; 31: 191-6.
24. Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, et al. Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PloS One 2011; 6: e17811.
25. Fletcher NA, Foley J, Parental age, genetic mutation, and cerebral palsy. J Med Genet 1993; 30: 44-6.
26. Fletcher NA, Marsden CD, Dyskinetic cerebral palsy: a clinical and genetic study. Dev Med Child Neurol 1996; 38: 873-80.
27. Flicek P, Amode MR, Barrell D, Beal K, Brent S, Chen Y, et al. Ensembl 2011. Nucleic Acids Res 2011; 39: D800-6.
28. Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 2014; 511: 344-7.
29. Graham EM, Ruis KA, Hartman AL, Northington FJ, Fox HE. A systematic review of the role of intrapartum hypoxia-ischemia in the causation of neonatal encephalopathy. Am J Obstet Gynecol 2008; 199: 587-95.
30. Grether JK, Nelson KB. Maternal infection and cerebral palsy in infants of normal birth weight. JAMA 1997; 278: 207-11.
31. Hirota J, Ando H, Hamada K, Mikoshiba K. Carbonic anhydraserelated protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1. Biochem J 2003; 372: 435-41.
32. Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, et al. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. Orphanet J Rare Dis 2012; 7: 67.
33. Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet 2006; 38: 184-90.
34. Imbrici P, Tucker SJ, D'Adamo MC, Pessia M. Role of receptor protein tyrosine phosphatase alpha (RPTPalpha) and tyrosine phosphorylation in the serotonergic inhibition of voltage-dependent potassium channels. Pflugers Arch 2000; 441: 257-62.
35. Imbrici P, D'Adamo MC, Kullmann DM, Pessia M. Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2. Eur J Neurosci 2006; 24: 3073-83.
36. Jacob FD, Ho ES, Martinez-Ojeda M, Darras BT, Khwaja OS. Case of infantile onset spinocerebellar ataxia type 5. J Child Neurol 2013; 28: 1292-5.
37. Jena AB, Seabury S, Lakdawalla D, Chandra A. Malpractice risk according to physician specialty. N Engl J Med 2011; 365: 629-36.
38. Kaya N, Aldhalaan H, Al-Younes B, Colak D, Shuaib T, Al-Mohaileb F, et al. Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. Am J Med Genet Part B Neuropsychiatr Genet 2011; 156B: 826-34.
39. Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature 2012; 488: 471-5.
40. Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, et al. Mutations in gamma adducin are associated with inherited cerebral palsy. Ann Neurol 2013; 74: 805-14.
41. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-81.
42. Ledwell JL, Aldrich RW. Mutations in the S4 region isolate the final voltage-dependent cooperative step in potassium channel activation. J Gen Physiol 1999; 113: 389-414.
43. Lee RW, Poretti A, Cohen JS, Levey E, Gwynn H, Johnston MV, et al. A diagnostic approach for cerebral palsy in the genomic era. Neuromolecular Med 2014; 16: 821-44.
44. Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, et al. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 2009; 25: 2744-50.
45. Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, et al. Recessive mutations in SPTBN2 implicate beta-III spectrin in both cognitive and motor development. PLoS Genet 2012; 8: e1003074.
46. Long SB, Campbell EB, Mackinnon R. Crystal structure of a mammalian voltage-dependent Shaker family K+ channel. Science 2005; 309: 897-903.
47. Martinez S, Andreu A, Mecklenburg N, Echevarria D. Cellular and molecular basis of cerebellar development. Front Neuroanat 2013; 7: 18.
48. Marzban H, Del Bigio MR, Alizadeh J, Ghavami S, Zachariah RM, Rastegar M. Cellular commitment in the developing cerebellum. Front Cell Neurosci 2014; 8: 450.
49. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297-303.
50. McMichael G, Girirajan S, Moreno-De-Luca A, Gecz J, Shard C, Nguyen LS, et al. Rare copy number variation in cerebral palsy. Eur J Hum Genet 2013; 22: 40-5.
51. Mikoshiba K, Furuichi T, Miyawaki A. Structure and function of IP3 receptors. Semin Cell Biol 1994; 5: 273-81.
52. Mikoshiba K. Role of IP(3) receptor in development. Cell Calcium 2011; 49: 331-40.
53. Miyatake S, Matsumoto N. Genetics: clinical exome sequencing in neurology practice. Nat Rev Neurol 2014; 10: 676-8.
54. Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt KR, et al. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J Med Genet 2011; 48: 141-4.
55. Moreno-De-Luca A, Ledbetter DH, Martin CL. Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies. Lancet Neurol 2012; 11: 283-92.
56. Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011; 478: 57-63.
57. Nelson KB. What proportion of cerebral palsy is related to birth asphyxia? J Pediatr 1988; 112: 572-4.
58. Nelson KB. Can we prevent cerebral palsy? N Engl J Med 2003; 349: 1765-9.
59. Nemeth, AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain 2013; 136: 3106-18.
60. O'Shea TM. Diagnosis, treatment, and prevention of cerebral palsy. Clin Obstet Gynecol 2008; 51: 816-28.
61. Oskoui M, Coutinho F, Dykeman J, Jette N, Pringsheim T. An update on the prevalence of cerebral palsy: a systematic review and metaanalysis. Dev Med Child Neurol 2013; 55: 509-19.
62. Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, et al. Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci USA 2008; 105: 4232-6.
63. Pathak M, Kurtz L, Tombola F, Isacoff E. The cooperative voltage sensor motion that gates a potassium channel. J Gen Physiol 2005; 125: 57-69.
64. Perkins EM, Clarkson YL, Sabatier N, Longhurst DM, Millward CP, Jack J, et al. Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. J Neurosci 2010; 30: 4857-67.
65. Pollard KS, Hubisz MJ, Rosenbloom KR, Siepel A. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res 2010; 20: 110-21.
66. Poretti A, Wolf NI, Boltshauser E. Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol 2008; 12: 155-67.
67. Rainier S, Sher C, Reish O, Thomas D, Fink JK. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol 2006; 63: 445-7.
68. Reid SM, Dagia CD, Ditchfield MR, Carlin JB, Reddihough DS. Population-based studies of brain imaging patterns in cerebral palsy. Dev Med Child Neurol 2013; 56: 222-32.
69. Rosenbaum P, Paneth N, Leviton A, Goldstein M, Bax M, Damiano D, Dan B, et al. A report: the definition and classification of cerebral palsy April 2006. Dev Med Child Neurol Suppl 2007; 109: 8-14.
70. Schmahmann JD, Sherman JC. Cerebellar cognitive affective syndrome. Int Rev Neurobiol 1997; 41: 433-40.
71. Schnekenberg RP, Nemeth AH. Next-generation sequencing in childhood disorders. Arch Dis Child 2014; 99: 284-90.
72. Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, et al. Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in earlyonset disease. Eur J Hum Genet 2013a; 21: 1031.
73. Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, et al. Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. Eur J Hum Genet 2013b; 21: 274-80.
74. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29: 308-11.
75. Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 2012; 40: W452-7.
76. Smithers-Sheedy H, Badawi N, Blair E, Cans C, Himmelmann K, Krageloh-Mann I, McIntyre S, et al. What constitutes cerebral palsy in the twenty-first century? Developmental medicine and child neurology 2014; 56: 323-8.
77. Srivastava S, Cohen JS, Vernon H, Baranano K, McClellan R, Jamal L, et al. Clinical whole exome sequencing in child neurology practice. Ann Neurol 2014; 76: 473-83.
78. Steinlin M. Non-progressive congenital ataxias. Brain Dev 1998; 20: 199-208.
79. Steinlin M, Zangger B, Boltshauser E. Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. Dev Med Child Neurol 1998; 40: 148-54.
80. Storey E. Spinocerebellar Ataxia Type 15. In: Pagon RA, Adam, MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, et al., editor. GeneReviews(R) [Internet]. Seattle, WA: University of Washington; 1993. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1116/
81. Thorvaldsdottir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 2013; 14: 178-92.
82. Turkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, et al. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet 2009; 5: e1000487.
83. van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet 2007; 3: e108.
84. Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet 2012; 13: 565-75.
85. Vieira C, Pombero A, Garcia-Lopez R, Gimeno L, Echevarria D, Martinez S. Molecular mechanisms controlling brain development: an overview of neuroepithelial secondary organizers. Int J Dev Biol 2010; 54: 7-20.
86. Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet 2006; 38: 447-51.
87. Wickham H. ggplot2: elegant graphics for data analysis. New York; London: Springer; 2009.
88. WMA. World Medical Association declaration of Helsinki. Recommendations guiding physicians in biomedical research involving human subjects. JAMA 1997; 277: 925-6.
89. Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet 2015 385: 1305-14.
90. Yapici Z, Eraksoy M. Non-progressive congenital ataxia with cerebellar hypoplasia in three families. Acta Paediatr 2005; 94: 248-53.
91. Yonekawa T, Oya Y, Higuchi Y, Hashiguchi A, Takashima H, Sugai K, et al. Extremely severe complicated spastic paraplegia 3A with neonatal onset. Pediatr Neurol 2014; 51: 726-9.