Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number

American Journal of Human Genetics

Volumn 63, Issue 6, 1998, Pages 1712-1723

  Parsons, D W ^a   McAndrew, P E ^a   Iannaccone, S T ^b   Mendell, J R ^a   Burghes, A H M ^a   Prior, Thomas W ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; FOUNDER EFFECT; FRAMESHIFT MUTATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATION RATE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPINAL MUSCULAR ATROPHY;

EID: 0032471510     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302160     Document Type: Article

References (56)

1. Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, 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
2. Brahe C, Velona I, van der Steege G, Zappata S, van de Veen AY, Osinga J, Tops CMJ, et al. (1994) Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis. Hum Genet 93:494-501
3. Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KG, Daniels R, Davies KE, et al. (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344:540-541
4. Burghes AHM (1997) When is a deletion not a deletion? When it is converted. Am J Hum Genet 61:9-15
5. Burghes AHM, Ingraham SE, Kote-Jarai Z, Rosenfeld S, Herta N, Nadkarni N, DiDonato CJ, et al (1994a) Linkage mapping of the spinal muscular atrophy gene. Hum Genet 93: 305-312
6. Burghes AHM, Ingraham SE, McLean M, Thompson TG, McPherson JD, Kote-Jarai Z, Carpten JD, et al. (1994b) A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. Genomics 21:394-402
7. Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, et al. (1996a) Structure and organization of the human survival motor neuron (SMN) gene. Genomics 32:479-482
8. Bürglen L, Patel S, Dubowitz V, Melki J, Muntoni F (1996b) A novel point mutation in the SMN gene in a patient with type III spinal muscular atrophy. Paper presented at the First Congress of the World Muscle Society. London, September 25-27
9. Bürglen L, Seroz T, Miniou P, Lefebvre S, Burlet P, Munnich A, Pequignot EV, et al. (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
10. Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, et al. (1995) A frameshift deletion, in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 11:335-337
11. Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K (1997) Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 61:40-50
12. Carpten JD, DiDonato CJ, Ingraham SE, Wagner-McPherson C, Nieuwenhuijsen BW, Wasmuth JJ, Burghes AHM (1994) A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region. Genomics 24:351-356
13. Carter TA, Bonnemann CG, Wang CH, Obici S, Parano E, Bonaldo M, Ross BM, et al. (1997) A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum Mol Genet 6: 229-236
14. Chakrabartty A, Schellman JA, Baldwin RW (1991) Large differences in the helix propensities of alanine and glycine. Nature 351:586-588
15. Cobben JM, van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys CHCM (1995) Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 57:805-808
16. Coovert DD, Lee TT, McAndrew PE, Stasswimmer J, Crawford TO, Mendell JR, Coulson SE, et al. (1997) The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 6:1205-1214
17. Daniels RJ, Thomas NH, MacKinnon RN, Lehner T, Ott J, Flint TJ, Dubowitz V, et al. (1992) Linkage analysis of spinal muscular atrophy. Genomics 12:335-339
18. DiDonato CJ, Ingraham SE, Mendell JR, Prior TW, Lenard S, Moxley R, Florence J, et al. (1997) Deletions and conversion in spinal muscular atrophy patients: is there a relationship to seventy? Ann Neurol 41:230-237
19. DiDonato CJ, Morgan K, Carpten JD, Fuerst P, Ingraham SE, Prescott G, McPherson JD, et al. (1994) Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet 55:1218-1229
20. Fischer U, Liu Q, Dreyfuss G (1997) The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 90:1023-1029
21. Francis MJ, Morrison KE, Campbell L, Grewal PK, Christodoulou Z, Daniels RJ, Monaco AP, et al (1993) A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. Hum Mol Genet 2:1161-1167
22. Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini C, Novelli G, et al. (1995) Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun 213: 342-348
23. Hahnen E, Forkert R, Merke C, Rudnik-Schoneborn S, Schonling J, Zerres K, Wirth B (1995) Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence for homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4:1927-1933
24. Hahnen E, Schonling J, Rudnik-Schoneborn S, Raschke H, Zerres K, 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
25. Hahnen E, Schonling J, Rudnik-Schoneborn S, Zerres K, Birth 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
26. Jolly DJ, Okayama H, Berg P, Esty AC, Filpula D, Bohlen P, Johnson GG, et al. (1983) Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase. Proc Natl Acad Sci USA 80: 477-481
27. Kleyn PW, Wang CH, Lien LL, Vitale E, Pan J, Ross BM, Grunn A, et al. (1993) Construction of a yeast artifical chromosome contig spanning the spinal muscular atrophy disease gene region. Proc Natl Acad Sci USA 90:6801-6805
28. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165
29. Lefebvre S, Burlet P, Lui Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, et al. (1997) Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 16:265-269
30. Liu Q, Dreyfuss G (1996) A novel nuclear structure containing the survival of motor neurons protein. EMBO J 15: 3555-3565
31. Liu Q, Fischer U, Wang F, Dreyfuss G (1997) The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 90:1013-1021
32. Lorson CL, Androphy EJ (1998) The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding. Hum Mol Genet 7:1269-1275
33. Lorson C, Strasswimmer J, Yao J-M, Baleja JD, Hahnen E, Wirth B, Le T, et al. (1998) SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 19:63-66
34. Lyu PC, Liff MI, Marky LA, Kallenbach NR (1990) Side chain contributions to the stability of alpha-helical structure in peptides. Science 250:669-673
35. MacKenzie A, Roy N, Besner A, Mettler G, Jacob P, Korneluk R, Surh L (1993) Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13.3 polymorphisms. Hum Genet 90:501-504
36. Mattaj IW (1998) Ribonucleoprotein assembly: clues from spinal muscular atrophy. Curr Biol 8:R93-R95
37. C gene copy number. Am J Hum Genet 60: 1411-1422
38. Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, Aicardi J, et al. (1990) Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344: 767-768
39. Melki J, Lefebvre S, Bürglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, et al (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264:1474-1477
40. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
41. Munsat TL, Davies KE (1992) Meeting report: International SMA Consortium meeting. Neuromuscul Disord 2:423-428
42. Parsons DW, McAndrew PE, Allinson PS, Parker WD Jr, Burghes AHM, Prior TW (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
43. Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AHM, Prior TW (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
44. Pearn J (1980) Classification of spinal muscular atrophies. Lancet 1:919-922
45. Rochette CF, Surh LC, Ray PN, McAndrew PE, Prior TW, Burghes AHM, Vanasse M, et al. (1997) Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. Neurogenetics 1:141-147
46. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4:631-634
47. Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, Baird S, et al. (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80:167-178
48. T and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity. Am J Med Genet 72:51-58
49. Simard LR, Vanasse M, Rochette C, Morgan K, Lemieux B, Melancon SB, Labuda D (1992) Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families. Genomics 14:188-190
50. Talbot K, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE (1997a) 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 6:497-501
51. Thompson TG, DiDonato CJ, Simard LR, Ingraham SE, Burghes AHM, Crawford TO, Rochette C, et al (1995) A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet 9:56-62
52. van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, Den Dunnen JT, van Ommen G-JB, et al. (1996) Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet 59:834-838
53. van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, Scheffer H, et al. (1995) PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345:985-986
54. CBCD541 and SMA phenotype. Hum Mol Genet 5:257-263
55. Wirth B, El-Agwany A, Baasner A, Burghes AHM, Koch A, Dadze A, Piechaczeck-Wappenschmidt B, et al. (1995) Mapping of the spinal muscular atrophy (SMA) gene to a 750 kb interval flanked by two microsatellites. Eur J Hum Genet 3:56-60
56. Wirth B, Pick E, Leutner A, Dadze A, Voosen B, Knapp M, Piechaczek-Wappenschmidt B, et al. (1994) Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3. Genomics 20: 84-93