New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy

Genetic Testing and Molecular Biomarkers

Volumn 15, Issue 5, 2011, Pages 319-326

  Gonçalves Rocha, Miguel ^a   Oliveira, Jorge ^a   Rodrigues, Luísa ^a   Santos, Rosário ^a  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ARTICLE; COHORT ANALYSIS; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; POINT MUTATION; POPULATION GENETIC PARAMETERS; RISK ASSESSMENT; SPINAL MUSCULAR ATROPHY;

EID: 79956124861     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0164     Document Type: Article

References (45)

1. Alías L, Bernal S, Fuentes-Prior P, et al. (2009) 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 125:29-39.
2. Arkblad EL, Darin N, Berg K, et al. (2006) Multiplex ligationdependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord 16:830-838. (Pubitemid 44855599)
3. Battaglia G, Princivalle A, Forti F, et al. (1997) Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum Mol Genet 6:1961-1971. (Pubitemid 27460374)
4. Botta A, Tacconelli A, Bagni I, et al. (2005) Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests. Neurology 65:1631-1635. (Pubitemid 41689480)
5. Brzustowicz LM, Lehner T, Castilla LH, et al. (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344:540-541.
6. Burghes AHM (1997) When is a deletion not a deletion? When it is converted. Am J Hum Genet 61:9-15.
7. Cartegni L, Hastings ML, Calarco JA, et al. (2006) Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet 78:63-77. (Pubitemid 41833160)
8. Cartegni L, Krainer AR (2002) Disruption of an SF2/ASFdependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence ofSMN1.Nat Genet 30:377-384.
9. Chen K, Wang YL, Rennert H, et al. (1999) Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence- based carrier testing for spinal muscular atrophy. Am J Hum Genet 85:463-469. (Pubitemid 29339942)
10. Chen WJ, Dong WJ, Lin XZ, et al. (2009) Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis. BMC Med Genet 10:45.
11. Clermont O, Burlet P, Benit P, et al. (2004) Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. Hum Mutat 24:417-427. (Pubitemid 39473667)
12. Coovert DD, Le TT, McAndrew PE, et al. (1997) The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 6:1205-1214. (Pubitemid 27351059)
13. Cuscó I, Barceló MJ, del Río E, et al. (2004) Detection of novel mutations in the SMN Tudor domain in type I SMA patients. Neurology 63:146-149. (Pubitemid 38943793)
14. Cusin V, Clermont O, Gerard B, et al. (2003) Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet 40:E39.
15. den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12. (Pubitemid 30036162)
16. Eggermann T, Eggermann K, Elbracht M, et al. (2009) A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches. Neuromuscul Disord 18:146-149.
17. Gérard B, Ginet N, Matthijs G, et al. (2000) Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension. Hum Mutat 16:253-263.
18. Hendrickson BC, Donohoe C, Akmaev VR, et al. (2009) Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet 46:641-644.
19. Kang SH, Cho SI, Chae JH, et al. (2009) False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy. Genet Test Mol Biomarkers 13:511-513.
20. Kashima T, Manley JL (2003) A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 34:460-463. (Pubitemid 36935342)
21. Lacerda L, Amaral O, Pinto R, et al. (1994) Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population. Clin Genet 45:298-300. (Pubitemid 24195301)
22. Lefebvre S, Burglen L, Reboullet S, et al. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165.
23. Lunn MR, Wang C (2008) Spinal muscular atrophy. Lancet 371:2120-2133. (Pubitemid 351842582)
24. Martín Y, Valero A, del Castillo E, et al. (2002) Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations. Hum Genet 110:257-263. (Pubitemid 36067446)
25. McAndrew PE, Parsons DW, Simard LR, et al. (1997) Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 60:1411-1422. (Pubitemid 27258073)
26. Meister G, Buhler D, Pillai R, et al. (2001) A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs. Nat Cell Biol 3:945-949. (Pubitemid 34428738)
27. Melki J, Abdelhak S, Sheth P, et al. (1990) Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344:767-778.
28. Ogino S, Leonard DG, Rennert H, et al. (2001) Heteroduplex formation in SMN gene dosage analysis. J Mol Diagn 3:150-157. (Pubitemid 33100335)
29. Ogino S, Leonard DG, Rennert H, et al. (2002) Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet 110:301-307. (Pubitemid 34701042)
30. Ogino S, Wilson RB, Gold B (2004) New insights on the evolution of the SMN1 and SMN2 region: simulation and metaanalysis for allele and haplotype frequency calculations. Eur J Hum Genet 12:1015-1023. (Pubitemid 39600129)
31. Parsons DW, McAndrew PE, Allinson PS, et al. (1998) Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis. J Med Genet 35:674-676. (Pubitemid 28371982)
32. Parsons DW, McAndrew PE, Monani UR, et al. (1996) An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet 5:1727-1732. (Pubitemid 26372407)
33. Pellizzoni L, Yong J, Dreyfuss G (2002) Essential role for the SMN complex in the specificity of snRNP assembly. Science 298:1775-1779. (Pubitemid 35404118)
34. Pyatt RE, Mihal DC, Prior TW (2007) Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy. Clin Chem 53:1879-1885. (Pubitemid 350036030)
35. Scarciolla O, Stuppia L, De Angelis MV, et al. (2006) Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. Neurogenetics 7:269-276. (Pubitemid 44584081)
36. Scheffer H, Cobben JM, Matthijs G, et al. (2001) Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet 9:484-491. (Pubitemid 32750488)
37. Setola V, Terao M, Locatelli D, et al. (2007) Axonal-SMN (a- SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis. Proc Natl Acad Sci USA 104:1959-1964. (Pubitemid 46239886)
38. Simsek M, Al-Bulushi T, Shanmugakonar M, et al. (2003) Allelespecific amplification of exon 7 in the survival motor neuron (SMN) genes for molecular diagnosis of spinal muscular atrophy. Genet Test 7:325-327. (Pubitemid 38199267)
39. Smith M, Calabro V, Chong B, et al. (2007) Population screening and cascade testing for carriers of SMA. Eur J Hum Genet 15:759-766. (Pubitemid 46965409)
40. Sutomo R, Akutsu T, Takeshima Y, et al. (2002) Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy. Am J Med Genet 113:225-226. (Pubitemid 35231558)
41. Todd AG, Shaw DJ, Morse R, et al. (2010) SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules. Biochem Biophys Res Commun 394:211-216.
42. van der Steege G, Grootscholten PM, van der Vlies P, et al. (1995) PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345:985-986.
43. Winkler C, Eggert C, Gradl D, et al. (2005) Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy. Genes Dev 19:2320-2330. (Pubitemid 41396909)
44. Wirth B, Herz M, Wetter A, et al. (1999) Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotypephenotype correlation, and implications for genetic counseling. Am J Hum Genet 64:1340-1356. (Pubitemid 30468752)
45. Wirth B, Schmidt T, Hahnen E, et al. (1997) 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 61:1102-1111. (Pubitemid 27492318)