Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype

Neuromuscular Disorders

Volumn 7, Issue 3, 1997, Pages 198-201

  Talbot, Kevin ^a   Rodrigues, Nanda R ^a   Ignatius, Jaakko ^b   Muntoni, Francesco ^c   Davies, Kay E ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b Vaestoliitto   (Finland)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Gene conversion; Spinal muscular atrophy; Survival motor neuron gene

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CHROMOSOME 5Q; DISEASE SEVERITY; EXON; GENE CONVERSION; GENE DELETION; GENE LOCUS; HUMAN; INFANT; MOTONEURON; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; SURVIVAL;

ADOLESCENT; ADULT; CELL SURVIVAL; CENTROMERE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; EXONS; GENE CONVERSION; GENE DELETION; HUMANS; INTRONS; MOTOR NEURONS; MUSCULAR ATROPHY, SPINAL; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROGNOSIS; SEQUENCE ANALYSIS, DNA; TELOMERE;

EID: 0030943861     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00450-1     Document Type: Article

References (22)

1. Dubowitz V. Muscle Disorders in Childhood, 2nd edn. London: WB Saunders, 1995:540.
2. Munsat T. Workshop report: International SMA Consortium. Neuromusc Disord 1991;1(1):81.
3. Melki J, Sheth P, Abdelhak S, et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5ql2-ql4. Lancet 1990:336(8710): 271-73.
4. Gilliam TC, Brzustowicz IM, Castilla LH, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990:345(28 June):823-25.
5. Brustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to 5q11.2-13.3. Nature 1990:344(5 April):540-41.
6. Melki J, Abdelhak S. Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990:344:767-68.
7. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995:80(l):155-65.
8. Liu Q, Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996:15(14):3555-65.
9. Burlet P, Burglen L, Clermont O, et al. Large scale deletions of the 5ql3 region are specific to Werdnig-Hoffmann disease. J Med Genet 1996:33:281-83.
10. Bussaglia E, Clermont O, Tizzano E, et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genet 1995:11(3):335-37.
11. Cobben JM, van dSG, Grootscholten P. de VM, 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(4):805-8.
12. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5ql3 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995:4(4): 631-34.
13. Rodrigues NR, Owen N, Talbot K, et al. Gene deletions in spinal muscular atrophy. J Med Genet 1996:33(2):93-6.
14. 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(8): 1273-84.
15. 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(1): 167-78.
16. van der Steege G, Grootscholten P. Cobben J. et al. Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus (SMA) on chromosome 5. Am J Hum Genet 1996:59(4):834-83.
17. Hahnen E, Schonung J, Rudnik-Schoneborn S. Zerres K, Wirth B. Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into the the molecular mechanisms responsible for the disease. Am J Hum Genet 1996: 59(4): 1057-65.
18. van der Steege G, Grootscholten PM, van der Vlies P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy [letter]. Lancet 1995:345(8955):985-6.
19. Velasco E, Valero C, Valero A, Moreno F. Hernandez-Chico C. Molecular analysis of SMN and NAIP genes in Spanish spinal muscular atrophy families and correlation between number of copies of CBCD541 and SMA phenotype. Hum Mol Genet 1996:5(2):257-63.
20. Rodrigues NR, Campbell L. Owen N, Rodeck CH, Davies KE. Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis [letter] [see comments]. Lancet 1995:345:8956.
21. Hahnen E, Forkert R, Marke C, et al. 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 1995:4(10): 1927-33.
22. Burglen L, Lefebvre S. Clermont O, et al. Structure and organisation of the human survival motor neurone (SMN) gene. Genomics 1996:32:479-82.