Perspectives and diagnostic considerations in spinal muscular atrophy

Genetics in Medicine

Volumn 12, Issue 3, 2010, Pages 145-152

  Prior, Thomas W ^a  

^a OHIO STATE UNIVERSITY   (United States)

Author keywords

Carrier testing; Genetic testing; SMN1; SMN2; Spinal muscular atrophy; Survival motor neuron

Indexed keywords

SMN1 PROTEIN, HUMAN; SMN2 PROTEIN, HUMAN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

GENE DOSAGE; GENETIC LINKAGE; GENETICS; HETEROZYGOTE DETECTION; HUMAN; MOLECULAR PATHOLOGY; MUTATION; NEWBORN; NEWBORN SCREENING; PATHOLOGY; REVIEW; SPINAL MUSCULAR ATROPHY;

GENE DOSAGE; GENETIC LINKAGE; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; MUSCULAR ATROPHY, SPINAL; MUTATION; NEONATAL SCREENING; PATHOLOGY, MOLECULAR; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 78650115906     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181c5e713     Document Type: Review

References (65)

1. Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978;15:409-413.
2. Prior TW. Carrier screening for spinal muscular atrophy. Genet Med 2009;10:20-26.
3. Munstat TL, Davies KE. International SMA consortium meeting. Neuromuscul Disord 1992;2:423-428.
4. Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy: clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995;52:518-523.
5. Meldrum C, Scott C, Swoboda KJ. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents perspective. J Child Neurol 2007;22:1019-1026.
6. Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analysis of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002;70:358-368.
7. Alias L, Bernal S, Fuentes-Prior P, et al. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet 2009;125:29-39.
8. Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990;244:540-541.
9. Melki J, Sheth P, Abdelhak S, et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet 1990;336:271-273.
10. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
11. Bürglen L, Lefebvre S, Clermont O, et al. Structure and organization of the human survival motor neuron (SMN) gene. Genomics 1996;32:479-482.
12. Monani UR, McPherson JD, Burghes AH. Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT). Biochim Biophys Acta 2007;1445:330-336.
13. Echaniz-Laguna A, Miniou P, Bartholdi D, Melki J. The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements. Am J Hum Genet 1999;64:1354-1370.
14. Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997;61:40-50.
15. McAndrew PE, Parsons DW, Simard LR, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 1997;60:1411-1422.
16. Wirth B, Herz M, Wetter A, et al. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet 1999;64:1340-1356.
17. Mailman MD, Heinz JW, Papp AC, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002;4:20-26.
18. Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet A 2004;130:207-310.
19. Hsieh-Li HM, Chang JG, Jong YJ, et al. A mouse model for spinal muscular atrophy. Nat Genet 2000;26:66-70.
20. Monani UR, Coovert DD, Burghes AH. Animal models of spinal muscular atrophy. Hum Mol Genet 2000;9:2451-2457.
21. Hoffman Y, Lorson CL, Stamm S, Androphy EJ, Wirth B. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci USA 2000;97:9618-9623.
22. Oprea GE, Krober S, McWhorter ML, et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 2008;320:524-527.
23. Lorson CL, Androphy EJ. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 2000;9:259-265.
24. Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999;96:6307-6311.
25. Cartegni L, Kraniner AR. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 2002;30:377-384.
26. Kashima T, Manley JL. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 2003;34:460-463.
27. Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997;16:265-269.
28. Coovert DD, Le TT, McAndrew PE, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997;6:1205-1214.
29. Gavrilov DK, Shi X, Das K, Gilliam TC, Wang CH. Differential SMN2 expression associated with SMA severity. Nat Genet 1998;20:230-231.
30. Prior TW, Krainer AR, Hua Y, et al. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet 2009;85:408-413.
31. van der Steege G, Grootscholten P, van der Vlies, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985-986.
32. Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 2005;57:704-712.
33. Green NS, Pass KA. Neonatal screening by DNA microarray: spots and chips. Nat Rev Genet 2005;6:147-151.
34. Saxena A. Issues in newborn screening. Genet Test 2003;7:131-134.
35. Pyatt RE, Mihal DC, Prior TW. Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy. Clin Chem 2007;53:1879-1885.
36. Lorson CL, Strasswimmer J, Yao JM, et al. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 1998;19:63-66.
37. Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy. Hum Mutat 2000;15:228-237.
38. Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW. Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect and modification of spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet 1998;63:1712-1723.
39. Gerard B, Ginet N, Matthijs G, et al. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension. Hum Mutat 2000;16:253-263.
40. Anhuf D, Eggermann T, Rudnik-Schoneborn S, Zerres K. Determination of SMN1 and SMN2 copy number using TaqMan technology. Hum Mutat 2003;22:74-78.
41. Su Y-N, Hung C-C, Li H, et al. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. Hum Mutat 2005;25:460-467.
42. Huang CH, Chang YY, Chen CH, et al. Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification. Genet Med 2007;9:241-248.
43. Wirth B, Schmidt T, Hahnen E. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate and implications for genetic counseling. Am J Hum Genet 1997;61:1102-1111.
44. Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet 2002;110:301-307.
45. Mailman MD, Hemingway T, Darsey RL, et al. Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome. Hum Genet 2001;108:109-115.
46. Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy. Hum Genet 2002;111:477-500.
47. Hendrickson BC, Donohoe C, Akmaev VR, et al. Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet 2009;46:641-644.
48. Kaback MM. Screening and prevention in Tay-Sachs disease: origins, update, and impact. Adv Genet 2001;44:253-265.
49. Claire Altman Heine Foundation Inc., for the Prevention of spinal muscular atrophy. Available at: www.preventsma.org. Accessed April 17, 2008.
50. Liu Q, Fischer U, Wang F, Drefuss G. The spinal muscular atrophy gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 1997;90:1013-1021.
51. Paushkin S, Gubitz AK, Massenet S, Dreyfuss G. The SMN complex, an assemblyosome of ribonucleoproteins. Curr Opin Cell Biol 2002;14:305-312.
52. Yong J, Wan L, Dreyfuss G. Why do cells need an assembly machine for RNA-protein complexes? Trends Cell Biol 2004;14:226-232.
53. Monani UR. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron 2005;48:885-896.
54. Zhang HL, Pan F, Hong D, Shenoy SM, Singer RH, Bassell GJ. Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J Neurosci 2003;23:6627-6637.
55. Rossoll W, Jablonka S, Andreassi C, et al. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol 2003;163:801-812.
56. Iannaccone ST. Modern management of spinal muscular atrophy. J Child Neurol 2007;22:974-978.
57. Chang JG, Hsieh-Li HM, Jong YJ, Wang NM, Tsai CH, Li H. Treatment of spinal muscular atrophy by sodium butyrate. Proc Nat Acad Sci USA 2001;98:9808-9813.
58. Brichita L, Holker I, Huang K, Klockgether T, Wirth B. in vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol 2006;59:970-975.
59. Brahe C, Vitali T, Tiziano FD, et al. Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet 2005;13:356-359.
60. Weihl CC, Connolly AM, Pestronk A. Valproate may improve strength and function in patients with type III/IV spinal muscular atrophy. Neurology 2006;67:500-501.
61. Tsai LK, Yang CC, Hwu WL, Li H. Valproic acid treatment in six patients with spinal muscular atrophy. Eur J Neurol 2007;14:e8-e9.
62. Swoboda KJ, Scott CB, Reyna SP. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One 2009;4:e5268.
63. Grzeschik SM, Ganta M, Prior TW, Heavlin WD, Chang CH. Hydroxyurea enhances SMN2 expression in spinal muscular atrophy. Ann Neurol 2005;58:194-202.
64. Cartegni L, Krainer AR. Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol 2003;10:120-125.
65. Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F. Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 expression in patient fibroblasts. Proc Natl Acad Sci USA 2003;100:4114-4119.