Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

Neurogenetics

Volumn 1, Issue 2, 1997, Pages 141-147

  Rochette, Camille F ^a   Surh, Linda C ^b   Ray, Peter N ^c   McAndrew, Patricia E ^d   Prior, Thomas W ^d   Burghes, Arthur H M ^d   Vanasse, Michel ^a   Simard, Louise R ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d OHIO STATE UNIVERSITY   (United States)

Author keywords

5q SMA; Non deletion patients; Point mutations; Quantitative PCR

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; DNA; NERVE PROTEIN; RNA BINDING PROTEIN; SMN PROTEIN (SPINAL MUSCULAR ATROPHY);

AMINO ACID SUBSTITUTION; ARTICLE; CHEMISTRY; EXON; FAMILY HEALTH; FEMALE; GENETICS; HUMAN; MALE; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA-BINDING PROTEINS;

EID: 0031215432     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050021     Document Type: Article

References (51)

1. Dubowitz, V. (1978) Muscle Disorders in Childhood. East Sussex, WB Saunders Co Ltd, pp 146-190.
2. Pearn, J. (1980) Classification of spinal muscular atrophies. Lancet, i, 919-922.
3. Munsat, T.M. (1991) Meeting report: International SMA Consortium Meeting. Neuromusc. Disord., 1, 81.
4. Melki, J., Lefebvre, S., Burglen, L., Burlet, P., Clermont, O., Millasseau, P., Reboullet, S., Bénichou, B., Zeviani, M., Le Paslier, D., Cohen, D., Weissenbach, J. and Munnich, A. (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science, 264, 1474-1477.
5. Burghes, A.H.M., Ingraham, S.E., McLean, M., Thompson, T.G., McPherson, J.D., Kote-Jarai, Z., Carpten, J.D., DiDonato, C.J., Ikeda, J.-E., Surh, L., Wirth, B., Sargent, C.A., Ferguson-Smith, M.A., Fuerst, P., Moyzis, R.K., Grady, D.L., Zerres, K., Korneluk, R., MacKenzie, A. and Wasmuth, J.J. (1994) A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. Genomics, 21, 394-402.
6. DiDonato, C.J., Morgan, K., Carpten, J.D., Fuerst, P., Ingraham, S.E., Prescott, G., McPherson, J.D., Wirth, B., Zerres, K., Hurko, O., Wasmuth, J.J., Mendell, J.R., Burghes, A.H.M., and Simard, L.R. (1994) Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am. J. Hum. Genet., 55, 1218-1229.
7. McLean, M.D., Roy, N., MacKenzie, A.E., Salih, M., Burghes, A.H.M., Simard, L., Korneluk, R.G., Ikeda, J.-E. and Surh, L. (1994) Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy. Hum. Mol. Genet., 3, 1951-1956.
8. Theodosiou, A.M., Morrison, K.E., Nesbit, A.M., Daniels, R.J., Campbell, L., Francis, M.J., Christodoulou, Z. and Davies, K.E. (1994) Complex repetitive arrangements of gene sequence in the refined candidate region of the spinal muscular atrophy gene in 5q13. Am. J. Hum. Genet., 55, 1209-1217.
9. Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le Paslier, D., Frézal, J., Cohen, D., Weissenbach, J., Munnich, A. and Melki, J. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell, 80, 155-165.
10. Roy, N., Mahadevan, M.S., McLean, M., Shutler, G., Yaraghi, Z., Farahani, R., Baird, S., Besner-Johnston, A., Lefebvre, C., Kang, X., Salih, M., Aubry, H., Tamai, K., Guan, X., Ioannou, P., Crawford, T.O., de Jong, P.J., Surh, L., Ikeda, J.-E., Korneluk, R.G. and MacKenzie, A. (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell, 80, 167-178.
11. Selig, S., Bruno, S., Scharf, J.M., Wang, C.H., Vitale, E., Gilliam, T.C. and Kunkel, L.M. (1995) Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc. Natl Acad. Sci. USA, 92, 3702-3706.
12. Thompson, T.G., DiDonato, C.J., Simard, L.R., Ingraham, S.E., Burghes, A.H.M., Crawford, T.O., Rochette, C., Mendell, J.R. and Wasmuth, J.J. (1995) A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nature Genet., 9, 56-62.
13. Wirth, B., Hahnen, E., Morgan, K., DiDonato, C.J., Dadze, A., Rudnik-Schöneborn, S., Simard, L.R., Zerres, K. and Burghes, A.H.M. (1995) Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum. Mol. Genet., 4, 1273-1284.
14. van der Steege, G., Draaijers, T.G., Grootscholten, P.M., Osinga, J., Anzevino, R., Velona, I., Den Dunnen, J.T., Scheffer, H., Brahe, C., van Ommen, G.J. and Buys, C.H.C.M. (1995) A provisional transcript map of the spinal muscular atrophy (SMA) critical region. Eur. J. Hum. Genet., 3, 87-95.
15. Bürglen, L., Seroz, T., Miniou, P., Lefebvre, S., Burlet, P., Munnich, A., Pequignot, E.V., Egly, J.-M. and Melki, M. (1997) The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Am. J. Hum. Genet., 60, 72-79.
16. Bussaglia, E., Clermont, O., Tizzano, E., Lefebvre, S., Bürglen, L., Cruaud, C., Urtizberea, J.A., Colomer, J., Munnich, A., Baiget, M. and Melki, J. (1995) A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genet., 11, 335-337.
17. Chang, J.-G., Jong, Y.-J., Huang, J.-M., Wang, W.-S., Yang, T.-Y., Chang, C.-P., Chen, Y.-J. and Lin, S.-P. (1995) Molecular basis of spinal muscular atrophy in Chinese. Am. J. Hum. Genet., 57, 1503-1505.
18. Cobben, J.M., van der Steege, G., Grootscholten, P., de Visser, M., Scheffer, H. and Buys, C.H.C.M. (1995) Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am. J. Hum. Genet., 57, 805-808.
19. Hahnen, E., Forkert, R., Marke, C., Rudnik-Schöneborn, S., Schönling, J., Zerres, K. and Wirth, B. (1995) Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum. Mol. Genet., 4, 1927-1933.
20. Rodrigues, N.R., Owen, N., Talbot, K., Ignatius, J., Dubowitz, V. and Davies, K.E. (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. Mol. Genet., 4, 631-634.
21. Brahe, C., Clermont, O., Zappata, S., Tiziano, F., Melki, J. and Neri, G. (1996) Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum. Mol. Genet., 5, 1971-1976.
22. Burlet, P., Bürglen, L., Clermont, O., Lefebvre, S., Viollet, L., Munnich, A. and Melki, J. (1996) Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J. Med. Genet., 29, 171-174.
23. Erdem, H., Pehlivan, S., Topaloglu, H., Yalnizoglu, D. and Akçoren, Z. (1996) Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients. J. Inher. Metab. Dis., 19, 724-728.
24. cBCD541 and SMA phenotype. Hum. Mol. Genet., 5, 257-263.
25. DiDonato, C.J., Ingraham, S.E., Mendell, J.R., Prior, T.W., Lenard, S., Moxley, R.T., Florence, J. and Burghes, A.H.M. (1996) Deletion and conversion in SMA patients: Is there a relationship to severity? Ann. Neurol., 41, 230-237.
26. T and NAIP. Am. J. Med. Genet., 71, in press.
27. Sommerville, M.J., Hunter, A.G.W., Aubry, H.L., Korneluk, R.G., MacKenzie, A.E. and Surh, L.C. (1997) Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes. Am. J. Med. Genet., 69, 159-165.
28. Hahnen, E., Schönling, J., Rudnik-Schöneborn, S., Zerres, K. and Wirth, B. (1996) Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am. J. Hum. Genet., 59, 1057-1065.
29. van der Steege, G., Grootscholten, P.M., Cobben, J.M., Zappata, S., Scheffer, H., den Dunnen, J.T., Van Ommen, G.-J.B., Brahe, C. and Buys, C.H.C.M. (1996) Apparent gene conversion involving the SMN gene in the region of the spinal muscular atrophy locus on Chromosome 5. Am. J. Hum. Genet., 58, 834-838.
30. Parsons, D.W., McAndrew, P.E., Monani, U.R., Mendell, J.R., Burghes, A.H.M. and Prior, T.W. (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.
31. C gene copy number. Am. J. Hum. Genet., 60, 1411-1422.
32. Talbot, K., Ponting, C.P., Theodosiou, A.M., Rodrigues, N.R., Surtees, R., Mountford, R. and Davies, K.E. (1997) Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Hum. Mol. Genet., 6. 497-500.
33. Hahnen, E., Schönling, J., Rudnik-Schöneborn, S., Raschke, H., Zerres, K. and Wirth, B. (1997) Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum. Mol. Genet., 6, 821-825.
34. Liu, Q. and Dreyfuss, G. (1996) A novel nuclear structure containing the survival of motor neurons protein. EMBO J., 15, 3555-3565.
35. van der Steege, G., Grootscholten, P.M., van der Vlies, P., Draaijers, T.G., Osinga, J., Cobben, J., Scheffer, H. and Buys, C.H.C.M. (1995) PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet, 345, 985-986.
36. Morrison, K.E. (1996) Advances in SMA research: review of gene deletions. Neuromusc. Disord., 6, 397-408.
37. Brahe, C., Servidei, S., Zappata, S., Ricci, E., Tonali, P. and Neri, G. (1995) Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet, 346, 741-742.
38. Clermont, O., Burlet, P., Lefebvre, S., Bürglen, L., Munnich, A. and Melki, J. (1995) SMN gene deletions in adult-onset spinal muscular atrophy. Lancet, 346, 1712-1713.
39. Zerres, K., Rudnik-Schöneborn, S., Forkert, R. and Wirth, B. (1995) Genetic basis of adult-onset spinal muscular atrophy. Lancet, 346, 1162.
40. Bürglen, L., Spiegel, R., Ignatius, J., Cobben, J.M., Landrieu, P., Lefebvre, S., Munnich, A. and Melki, J. (1995) SMN gene deletions in variant of infantile spinal muscular atrophy. Lancet, 346, 316-317.
41. Bürglen, L., Amiel, J., Viollet, L., Lefebvre, S., Burlet, P., Clermont, O., Raclin, V., Landrieu, P., Verloes, A., Munnich, A. and Melki, J. (1996) Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. J. Clin. Invest., 98, 1130-1132.
42. Rudnik-Schöneborn, S., Forkert, R., Hahnen, E., Wirth, B. and Zerres, K. (1996) Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics, 27, 1-8.
43. T) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum. Mol. Genet., 5, 359-365.
44. Schaap, T. (1978) Werdnig-Hoffmann disease on Réunion Island: a founder effect? Clin. Genet., 27, 617-619.
45. Pascalet-Guidon, M.-J., Bois, E., Feingold, J., Mattei, J.-F., Combes, J.-C. and Hamon, C. (1984) Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island. Clin. Genet., 26, 39-42.
46. Fried, K. and Mundel, G. (1997) High incidence of spinal muscular atrophy type I (Werdnig-Hoffmann disease) in the Karaite community in Israel. Clin. Genet., 12, 250-251.
47. Simard, L.R., Prescott, G., Rochette, C., Morgan, K., Lemieux, B., Mathieu, J., Melançon, S.B. and Vanasse, M. (1994) Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population. Hum. Mol. Genet., 3, 459-463.
48. DiDonato, C.J., Chen, X.-N., Noya, D., Korenberg, J.R., Nadeau, J.H. and Simard, L.R. (1997) Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. Genome Res., 7, 339-352.
49. Violet, L., Bertrandy, S., Brunalti, A.L.B., Lefebvre, S., Burlet, P., Clermont, O., Cruaud, C., Grénet, J.-L., Munnich, A. and Melki, J. (1997) cDNA isolation of the mouse survival motor neuron gene (Smn). Genomics, 40, 185-188.
50. Forti, F., Brincivale, A., Lizier, C., Battaglia, G. and Zeviani, M. (1996) Expression of the survival of motor neuron (SMN) gene and gene product in the mammalian central nervous system. Am. J. Hum. Genet., A149.
51. Bürglen, L., Lefebvre, S., Clermont, O., Burlet, P., Viollet, L., Cruaud, C., Munnich, A. and Melki, J. (1996) Structure and organization of the human survival motor neuron (SMN) gene. Genomics, 32, 479-482.