Molecular genetic study of a childhood form of spinal muscular atrophy

Journal of Child Neurology

Volumn 16, Issue 4, 2001, Pages 291-294

  Wong, Virginia ^a   Chan, Vivian ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

INHIBITOR OF APOPTOSIS PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE MARKER; DISEASE SEVERITY; EXON; FAMILY; FEMALE; GENE DELETION; HOMOZYGOSITY; HUMAN; LABORATORY; MALE; MOLECULAR GENETICS; ONSET AGE; PRIORITY JOURNAL; RELATIVE; SPINAL MUSCULAR ATROPHY; SYMPTOM;

EID: 0035005936     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380101600412     Document Type: Article

References (27)

1. Peam JH: The gene frequency of acute Werdnig-Hoffmann disease (SMA type I). A total population survey in North-East England. J Med Genet 1973;10:260-265.
2. 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.
3. Melki J, Abdelhak S, Sheth P, et al: Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990;344:767-768.
4. Gilliam TC, Brzustowicz LM, Castilla LH, et al: Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990;336:271-273.
5. Melki J, Sheth P, Abdelhak S, et al: Mapping of acute (type 1) spinal muscular atrophy to chromosome 5q12-q14. Lancet 1990;336:271-273.
6. Lefebvre S, Bürglen L, Reboullet S, et al: Identification and characterization of spinal muscular atrophy-determining gene. Cell 1995;80: 155-165.
7. 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;80:167-178.
8. Talbot K: What's new in the molecular genetics of spinal muscular atrophy. Eur J Paediatr Neurol 1997;5/6:149-155.
9. Zerres K, Wirth B, Rudnik-Schöneborn S: Spinal muscular atrophy: Clinical and genetic correlations. Neuromuscul Disord 1997;7:202-207.
10. Zerres K, Davies KE: Workshop report. 59th ENMC International Workshop: Spinal muscular atrophies: Recent progress and revised diagnostic criteria. Neuromuscul Disord 1999;9:272-278.
11. Melki J, Lefebvre S, Bürglen L, et al: De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 1991;264: 1474-1477.
12. Hahnen E, Schonling J, Rudnik-Schoneborn S, et al: Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum Mol Genet 1997;6:821-825.
13. Talbot K, Ponting C, Theodisiou A, et al: 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 1997;6:497-500.
14. Williams-Parsons D, McAndrew P, Monani U, et al: 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 1996;5:1727-1732.
15. Brahe C, Clermont O, Zappata S, et al: Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet 1996;5:1971-1976.
16. Van der Steege G, Grootscholten P, Cobben JM, 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 1995; 58:834-838.
17. Hahnen E, Schonling J, Rudnik-Schneborn S, et al: Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into the molecular mechanisms responsible for the disease. Am J Hum Genet 1996;59:1057-1065.
18. Talbot K, Rodrigues NR, Ignatius J, et al: Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype. Neuromuscul Disord 1997;7:198-201.
19. Chang JG, Jong YJ, Lin SP, et al: Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents. Hum Genet 1997;100:577-581.
20. Dubowitz V: Chaos in classification of spinal muscular atrophies of childhood. Neuromuscul Disord 1991;1:77-80.
21. The International SMA Consortium Meeting report. Neuromuscul Disord 1992;2:423-428.
22. Van der Steege G, Grootscholten PM, Cobben JM, et al: Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet 1996;59: 834-838.
23. 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.
24. Somerville MJ, Hunter AGW, Aubry HL, et al: 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 1997;69:159-165.
25. Parsons DW, McAndrew PE, Iannaccone ST, et al: Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet 1998;63:1712-1723.
26. Monani UR, Lorson CL, Parsons DW, et al: A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999;8:1177-1183.
27. Brahe C: Copies of the survival motor neuron gene in spinal muscular atrophy: The more the better. Neuromuscul Disord 2000;10:274-275.