Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)

Human Molecular Genetics

Volumn 6, Issue 5, 1997, Pages 821-825

  Hahnen, Eric ^a   Schönling, Jutta ^a   Rudnik Schöneborn, Sabine ^a   Raschke, Heidrun ^a   Zerres, Klaus ^a   Wirth, Brunhilde ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE; RNA BINDING PROTEIN; TYROSINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MOTONEURON; MUSCLE ATROPHY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA METABOLISM; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

EID: 0030987818     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.5.821     Document Type: Article

References (22)

1. International SMA Consortium (1992). Meeting report: International SMA Consortium Meeting. Neuromusc. Disord., 2, 423-428.
2. Zerres, K. and Rudnik-Schöneborn, S. (1995). Natural history in proximal spinal muscular atrophy. Arch. Neurol., 52, 518-523.
3. Lefebvre, S., BYrglen, 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. and Melki, J. (1995). Identification and characterization of a spinal muscular atrophy-determinig gene. Cell, 80, 155-165.
4. 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., Ionannou, P., Crawford, T.O., de Jong, P.J., Surh, L., Ikeda, J., Korneluk, R.G. and MacKenzie, A. (1995). 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 1, 2 and 3 spinal muscular atrophy (SMA). Cell, 80, 167-178.
5. Bürglen, L., Lefebvre, S., Clermont, O., Burlet, P,. Viollet, L,. Cruaud, C., Munnich, A. and Melki, J. (1996). Structure and organization of the human survival motor neuron (SMN) gene. Genomics, 32, 479-482.
6. Hahnen, E. and Wirth, B. (1996). Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility for distinguishing the two copies of the gene. Hum. Genet., 98, 122-123.
7. van der Steege, G., Grootscholten, P.M., van der Vlies, P., Draaijers, T.G., Osinga, J., Cobben, J..M., Scheffer, H. and Buys, C.H.C.M. (1995). PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet, 345, 985-986.
8. Rodrigues, N.R., Owen, N., Talbot, K., Ignatius, J., Dubowitz, V. and 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.
9. Hahnen, E., Forkert, R., Marke, C., Rudnik-Schöneborn, S., Schönling, J., Zerres, K. and Wirth, B. (1995). Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of deletions of the SMN gene in unaffected individuals. Hum. Mol. Genet., 4, 1927-1933.
10. Cobben, J.M., Steege van der, G., Grootscholten, P., de Visser, M., Scheffer, H. and 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.
11. Hahnen, E., Schönling, J., Rudnik-Schöneborn, S., Zerres, K. and Wirth, B. (1996). Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into molecular mechanisms responsible for the disease. Am. J. Hum. Genet., 59, 1057-1065.
12. van der Steege, G., Grootscholten, P.M., Cobben, J.M., Zappata, S., Scheffer, H., den Dunnen, J.T., van Ommen, G.B., Brahe, C. and Buys, C.H.C.M. (1996). Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am. J. Hum. Genet., 59, 834-838.
13. Wang, C.H., Xu, J., Carter, T.A., Ross, B.M., Dominski, M.K., Bellcross, C.A., Penchaszadeh, G.K., Munsat, T.L. and Gilliam, T.C. (1996). Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum. Mol. Genet., 5, 359-365.
14. Bussaglia, E., Clermont, O., Tizzano, E., Lefevbre, S., Bürglen, L., Cruaud, C., Urtizberea, J.A., Colomer, J., Munnich, A., Baiget, M. and Melki, J. (1995). A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genet., 11, 335-337.
15. Parsons, D.W., McAndrew, P.E., Monani, U.R., Mendell, J.R., Burghes, A.H.M. and Prior, T.W. (1996). An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for the SMN as the primary SMA-determining gene. Hum. Mol. Genet., 5, 1727-1732.
16. Brahe, C., Clermont, O., Zappata, S., Tiziano, F., Melki, J. and Neri, G. (1996). Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum. Mol. Genet., 5, 1971-1976.
17. Wirth, B., Hahnen, E., Morgan, K., DiDonato, C.J., Dadze. A., Rudnik-Schöneborn, S., Simard, L.R., Zerres, K. and Burghes, A.H.M. (1995). Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum. Mol. Genet., 4, 1273-1284.
18. Scharf, J.M., Damron, D., Frisella, A., Bruno, S., Beggs, A.H., Kunkel, L.M. and Dietrich, W.F. (1996). The mouse region syntenic for human spinal muscular atrophy lies within the Lgnl critical interval and contains multiple copies of NAIP exon 5. Genomics, 38, 405-417.
19. Viollet, L., Bertrandy, S., Brunialti, A., Lefebvre, S., Clermont, O., Burlet, P., Cruaud, C., Guenet, J.L., Munnich, A. and Melki, J. (1996) The mouse survival motor neuron gene (SMN): cDNA isolation, expression and chromosome mapping. Am. J. Hum. Genet., 59, 913.
20. McAndrew, P.E., Parsons, D.W., Mendell, J.R., Burghes, A.H.M. and Prior, T.W. (1996) Gene-dosage of cen and tel SMN genes for assessment of sequence conversion SMA status, and carrier detection. Am. J. Hum. Genet., 59, 1568.
21. Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 3, 1215.
22. Talbot, K., Ponting, C. P., Theodosiou, A. M., Rodriques N. R., Surtees, R., Mountford, R. and Davies K. E. (1997) Missense mutation clustering in the survival motor neurone gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Hum. Mol. Genet., 6, 497-500.