Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

Human Molecular Genetics

Volumn 5, Issue 12, 1996, Pages 1971-1976

  Brahe, Christina ^a   Clermont, Olivier ^b   Zappata, Stefania ^a   Tiziano, Francesco ^a   Melki, Judith ^b   Neri, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER; NERVE PROTEIN;

ARTICLE; CHROMOSOME 5Q; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE NUMBER; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MOTONEURON; NERVE CELL NECROSIS; NEWBORN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPINAL MUSCULAR ATROPHY; STOP CODON;

EID: 0029803986     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.12.1971     Document Type: Article

References (25)

1. Munsat, T.L., Davies, K.E. (1992) Meeting Report. International SMA Consortium Meeting. Neuromusc. Disord., 2, 423-428.
2. Pearn, J.H., Hudgson, P., Walton, J.N. (1978) A clinical and genetic study of spinal muscular atrophy of adult onset. Brain, 101, 591-606.
3. Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le Paslier, D., Frézal J., Cohen, D., Weissenbach, J., Munnich, A., Melki, J. (1995) Identification and characterization of spinal muscular atrophy-determining gene. Cell, 80, 155-165.
4. Van der Steege, G., Grootscholten, P.M., van der Vlies, P., Draaijers, T.G., Osinga, J., Cobben, J.M., Scheffer, H., Buys, C.H.C.M. (1995) PCR-based DNA test to confirm the clinical diagnosis of autosomal recessive spinal muscular atrophy (SMA). Lancet, 345, 985-986.
5. Rodrigues, N.R., Owen, N., Talbot, K., Ignatius, J., Dubowitz, V., Davies, K.E. (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. Mol. Genet., 4, 631-634.
6. Hahnen, E., Forkert, R., Marke, C., Schöneborn, S., Schönling, J., Zerres, K., Wirth, B. (1995) 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., 4, 1927-1933.
7. Cobben, J.M., van der Steege, G., Grootscholten, P., de Visser, M., Scheffer, H., Buys, C.H.C.M. (1995) Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am. J .Hum. Genet., 57, 805-808.
8. cBCD541 and SMA phenotype. Hum. Mol. Genet., 5, 257-263.
9. Brahe, C., Servidei, S., Zappata, S., Ricci, E., Tonali, P., Neri, G. (1995) Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet, 346, 741-742.
10. Clermont, O., Burlet, P., Lefebvre S., Bürglen, L., Munnich, A., Melki, J. (1995) SMN gene deletions in adult-onset spinal muscular atrophy. Lancet, 346, 1712-1713.
11. Rodrigues, N.R., Owen, N., Talbot, K., Patel, S., Muntoni, F., Ignatius, J., Dubowitz, V., Davies, K.E. (1996) Gene deletions in spinal muscular atrophy. J. Med. Genet., 33, 93-96.
12. Burlet, P., Bürglen, L., Clermont, O., Lefebvre, S., Viollet, L., Munnich, A., Melki, J. (1996) Large scale deletions of the 5q13 region are specific to Werdnig-Hoffman disease. J. Med. Genet., 33, 281-283.
13. Melki, J., Lefebvre, S., Burglen, L., Burlet, P., Clermont, O., Millasseau, P., Reboullet, S., Bénichou, B., Zeviani, M., Le Paslier, D., Cohen, D., Weissenbach, J., Munnich, A. (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science, 264, 1474-1477.
14. DiDonato, C., Morgan, K., Carpten, J.D., Fuerst, P., Ingraham, S.E., Prescott, G., McPherson, J., Wirth, B., Zerres, K., Hurko, O., Wasmuth, J.J., Mendell, J.R., Burghes, A.H.M., Simard, L.R. (1994) Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am. J. Hum Genet., 55, 1218-1229.
15. Roy, N., Mahadevan, M.S., McLean, M., Shutler, G., Yaraghi, Z., Farahani, R., Baird, S., Besner-Johnston, A., Lefebvre, C., Kang, X., Salih, M., Aubry, H., Tamai, K., Guan, X., Ioannou, P., Crawford, T.O., de Jong, P.J., Surh, L., Ikeda, J.-E., Korneluk, R.G., MacKenzie, A. (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell, 80, 167-178.
16. Bussaglia, E., Clermont, O., Tizzano, E., Lefebvre, S., Bürglen, L., Cruaud, C., Urtizberea, J.A., Colomer, J., Munnich, A., Baiget, M., Melki, J. (1995) A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genet., 11, 335-337.
17. Munsat, T.,L. (1991) Workshop report: International SMA collaboration. Neuromusc. Disord., 1, 81.
18. Hahnen, E.T., Wirth, B. (1996) Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility to distinguish the two copies of the gene. Hum. Genet., 98, 122-123.
19. Bürglen, L., Lefebvre, S., Clermont, O., Burlet, P,. Viollet, L., Cruaud, C., Munnich, A., Melki, J. (1996) Structure and organization of the human survival motor neurone (SMN) gene. Genomics, 32, 479-482.
20. Lewin, B. (1995) Genes for SMA: Multum in parvo. Cell, 80, 1-5.
21. Liston, P., Roy N., Tamai K., Lefebvre C., Baird S., Cherton-Horvat G., Farahani R., McLean M., Ideda J.-E., MacKenzie A., Korneluk R.G. (1996) Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes. Nature, 379, 349-353.
22. Francis, M.J., Nesbit, M.A., Theodosiou, A.M., Rodrigues, N.R., Campbell, L., Christodoulou, Z., Qureshi S.J., Porteous, D.J., Brookes A.J., Davies K.E. (1995) Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13. Genomics, 27, 366-369.
23. Zappata, S., Tiziano, F., Neri, G., Brahe, C. (1996) Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family. Hum. Genet., 97, 315-318.
24. Chomczynski, P., Sacchi, N. (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem., 162, 156-159.
25. Brahe, C., Velonà, I., Van der Steege, G., Zappata, S., Van de Veen, A.Y., Osinga, J., Tops, C.M.J., Fodde, R., Khan, M.P, Buys, C.H.C.M., Neri, G. (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.