Molecular diagnosis of spinal muscular atrophy

Archives of Disease in Childhood

Volumn 78, Issue 6, 1998, Pages 531-535

  Stewart, H ^a   Wallace, A ^a   McGaughran, J ^a   Mountford, R ^a   Kingston, H ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

Author keywords

Molecular diagnosis; Neuronal apoptosis inhibitory protein gene; Spinal muscular atrophy; Survival motor neurone gene

Indexed keywords

CELL PROTEIN; INHIBITOR PROTEIN; NEURONAL APOPTOSIS INHIBITORY PROTEIN; SURVIVAL MOTOR NEURON PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; ELECTROMYOGRAM; FEMALE; FETUS; GENE DELETION; GENOTYPE; HOMOZYGOSITY; HUMAN; INFANT; MALE; MUSCLE BIOPSY; PRESCHOOL CHILD; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

EID: 0031746981     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.78.6.531     Document Type: Article

References (29)

1. Zerres K, Rudnik-Schoneborn S. Spinal muscular atrophies. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Principles and practice of medical genetics. New York: Churchill Livingstone, 1997:2387-403.
2. Baraitser M. Anterior horn cell disease. In: Motulsky AG, Bobrow M, Harper PS, Scriver C, eds. The genetics of neurological disorders. Oxford: Oxford University Press, 1990:248-66.
3. Pearn J. The gene frequency of acute Werdnig-Hoffmann disease (SMA type I). A total population survey in north east England. J Med Genet 1973;10:260-5.
4. Coovert D, Le T, McAndrew P, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997;6:1205-14.
5. Liu Q, Fischer U, Wang F, Dreyfuss G. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 1997;90:1013-21.
6. Fischer U, Liu Q, Dreyfuss G. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 1997;90:1023-9.
7. 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;344:540-1.
8. Melki J, Sheth P, Abdelhak S, et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-14. Lancet 1990;336:271-3.
9. Daniels RJ, Suthers GK, Morrison KE, et al. Prenatal prediction of spinal muscular atrophy. J Med Genet 1992;29:165-70.
10. Wirth B, Rudnik-Schoneborn S, Hahnen E, Rohrig D, Zerres K. Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases. Prenat Diagn 1995;15:407-17.
11. Melki J, Lefebvre S, Burglen L, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 1994;264:1474-7.
12. Daniels RJ, Campbell L, Rodrigues NR, et al. Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele. J Med Genet 1995; 32:93-6.
13. Lewin B. Genes for SMA: multum in parvo. Cell 1995;80:1-5
14. Roy N, Mahadevan MS, McLean M, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80: 167-78.
15. Thompson TG, DiDonato CJ, Simard LR, et al. A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet 1995;9:56-62.
16. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.
17. Morrison KE, Qureshi SJ, Anderson S, et al. Novel transcribed sequences represented in the complex genomic region 5q13. Biochim Biophys Acta 1996;1308:97-102.
18. Rodrigues NR, Owen N, Talbot K, et al. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995;4:631-4.
19. Bussaglia E, Clermont O, Tizzano E, et al. A frame-shift deletion in the survival motor neurone gene in Spanish spinal muscular atrophy patients. Nat Genet 1995;11:335-7.
20. T) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet 1996;5:359-65.
21. Velasco E, Valero C, Valero A, Moreno F, Hernandez-Chico C. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of BCD541 and SMA phenotype. Hum Mol Genet 1996;5:257-63.
22. Rodrigues NR, Owen N, Talbot K, et al. Gene deletions in spinal muscular atrophy. J Med Genet 1996;33:93-6.
23. Burlet P, Burglen L, Clermont O, et al. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J Med Genet 1996;33:281-3.
24. Capon F, Lo Cicero S, Levato C, Novelli G, Dallapiccola B. De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy. Prenat Diagn 1995;15:93-4.
25. Cobben JM, Scheffer H, De Visser M, et al. Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present deletion analysis. Eur J Hum Genet 1996;4:231-6.
26. Cobben JM, van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys CHCM. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 1995;57:805-8.
27. Sambrook J, Frisch E, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory, 1989.
28. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989;86:2766-70.
29. Novelli G, Capon F, Tamisari L, et al. Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13. J Med Genet 1995;32:216-19.