Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?

Annals of Neurology

Volumn 41, Issue 2, 1997, Pages 230-237

  DiDonato, Christine J ^a   Ingraham, Susan E ^b   Mendell, Jerry R ^b   Prior, Thomas W ^b   Lenard, Sharon ^c   Moxley III, Richard T ^d   Florence, Julaine ^e   Burghes, Arthur H M ^a,b,f  

^a Department of Entomology   (United States)

^b THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c NATIONWIDE CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f 452 Means Hall ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; DISEASE SEVERITY; FAMILY STUDY; FEMALE; GENE CONVERSION; GENE DELETION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPINAL MUSCULAR ATROPHY;

BASE SEQUENCE; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; MUTATION; PEDIGREE;

EID: 0031059705     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410410214     Document Type: Article

References (36)

1. Munsat TM, Davies KE. Meeting report: International SMA Consortium meeting. Neuromuscul Disord 1992;2:423-428
2. Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy (SMA) - clinical analysis of 445 patients and suggestions for modification of existing classifications. Arch Neurol 1995;52:518-523
3. 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;344:540-541
4. Melki J, Abdelhak S, Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990;344:767-768
5. Simard LR, Vanasse M, Rochette C, et al. Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families. Genomics 1992;14:188-190
6. MacKenzie A, Roy N, Besner A, et al. Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13 polymorphisms. Hum Genet 1993;90: 113-118
7. Burghes AHM, Ingraham SE, Kote-Jarai Z, et al. Linkage mapping of the spinal muscular atrophy gene. Hum Genet 1994; 93:305-312
8. Daniels RJ, Thomas NH, MacKinnon RN, et al. Linkage analysis of spinal muscular atrophy. Genomics 1992;12:335-339
9. Wirth B, Pick E, Leutner A, et al. 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 1994;20:84-93
10. Brahe C, Velona I, Steege van der G, et al. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis. Hum. Genet 1994;93:494-501
11. Wirth B, El-Agwany A, Baasner A, et al. Mapping of the spinal muscular atrophy (SMA) gene to a 750 kb interval flanked by two microsatellites. Eur J Hum Genet 1995;3:56-60
12. Kleyn PW, Wang CH, Lien LL, et al. Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region. Proc Natl Acad Sci USA 1993;90: 6801-6805
13. Francis MJ, Morrison KE, Campbell L, et al. A contig of non-chimeric YACs containing the spinal muscular atrophy gene in 5q13. Hum Mol Genet 1993;2:1161-1167
14. Carpten JD, DiDonato CJ, Ingraham SE, et al. A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region. Genomic 1994; 24:351-356
15. Melki J, Lefebvre S, Burglen L, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 1994;264:1474-1477
16. Roy N, Mahadevan MS, McLean M, et al. The gene for neuronal apoptosis inhibitor protein (NAIP), a novel protein with homology to baculoviral inhibitors of apoptosis, is partially deleted in individuals with type I, II and III spinal muscular atrophy (SMA). Cell 1995;80:167-178
17. Thompson TG, DiDonato CJ, Simard RL, et al. A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet 1993; 9:56-62
18. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of the spinal muscular atrophy determining gene. Cell 1995;80:155-165
19. Burghes AHM, Ingraham SE, McLean M, et al. A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. Genomics 1994;21:394-402
20. DiDonato CJ, Morgan K, Carpten JD, et al. Association between AgI-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet 1994;55: 1218-1229
21. McLean MD, Roy N, MacKenzie AE, et al. Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type I spinal muscular atrophy. Hum Mol Genet 1994;3:1951-1956
22. Wirth B, Hahnen E, Morgan K, et al. Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet 1995;4:1273-1284
23. Burglen L, Lefebvre S, Clermont O, et al. Structure and organization of the human survival of motor neuron (SMN) gene. Genomics 1996;479-482
24. Bussaglia E, Clermont O, Tizzano, E, et al. A frame-shift deletion in the survival motor neuron in Spanish spinal muscular atrophy patients. Nat Genet 1995;11:335-337
25. Van der Steege G, Grootscholten PM, Vilies Van der P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985-986
26. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press. 1989
27. Hahnen E, Forkert R, Marke C, et al. Molecular analysis of candidate genes on 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995;4:1927-1933
28. Cobben JM, Van der Steege G, Grootscholten P, et al. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 1995;57:805-809
29. Rodrigues NR, Owen N, Talbot K, et al. Gene deletions in spinal muscular atrophy. J Med Genet 1996;33:93-96
30. cBCD541 and SMA phenotype. Hum Mol Genet 1996; 5:257-263
31. Horowitz M, Zimran A. Mutations causing Gaucher disease. Hum Mutat 1994;3:1-11
32. Strasberg PM, Triggs-Raine BL, Warren IB, et al. Genotype-phenotype pitfalls in Gaucher disease. J Clin Lab Anal 1994; 8:228-236
33. Kiesewetter M, Macek C Jr, Davis SM, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993;5:274-277
34. Brahe C, Servidei S, Zappata S, et al. Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet 1996;346:741-742
35. T) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet 1996;5:359-365
36. Rozmahel R, Wilschanski M, Matin A, et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 1996;3:280-287