A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation

Neurogenetics

Volumn 1, Issue 1, 1997, Pages 29-30

  Novelli, Giuseppe ^a   Semprini, Sabrina ^a   Capon, Francesca ^a   Dallapiccola, Bruno ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Genotype phenotype correlation; NAIP; Sex gene deletion; SMN; Spinal muscular atrophy

Indexed keywords

BIRC1 PROTEIN, HUMAN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; NERVE PROTEIN; NEURONAL APOPTOSIS INHIBITORY PROTEIN; RNA BINDING PROTEIN; SMN PROTEIN (SPINAL MUSCULAR ATROPHY);

ARTICLE; FEMALE; GENE DELETION; GENETIC VARIABILITY; GENETICS; HUMAN; MALE; PHENOTYPE; SEX DIFFERENCE; SPINAL MUSCULAR ATROPHY;

CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FEMALE; GENE DELETION; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; NEURONAL APOPTOSIS-INHIBITORY PROTEIN; PHENOTYPE; RNA-BINDING PROTEINS; SEX FACTORS; VARIATION (GENETICS);

EID: 0031128779     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050004     Document Type: Article

References (15)

1. Dubowitz, V. (1995) Muscle Disorders of Childhood. WB Saunders, London.
2. Lefebvre, S., Burglen, L., Rebouleet, S., Clermont, O., Burlet, P., Viollet, L., Milasseau, P., Zeviani, M., Le Paslier, D., Frezal, J., Cohen, D., Weissenbach, J., Munnich, A. and Melki, J. (1995) Identification and characterization of a spinal muscular atrophy determining gene. Cell, 80, 1-11.
3. Roy, N., Mahadevan, M.S., McLeon, M., Shutler, G., Yaraghi, Z., Farahani, R., Stephen, B., 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., Korelouk, R.G. and MacKenzie A. (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell, 80, 167-176.
4. Rodrigues, N.R., Owen, N., Talbot, K., Patel, S., Muntoni, F., Ignatius, J., Dubowitz, V. and Davies, K.E. (1996) Gene deletions in spinal muscular atrophy. J. Med. Genet., 33, 93-96.
5. 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.
6. Burlet, P., Burglen, L., Clermont, O., Lefebvre, S., Viollet, L., Munnich, A. and Melki, J. (1996) Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J. Med. Genet., 33, 281-283.
7. Crawford, T.O. (1996) From enigmatic to problematic: the new molecular genetics of childhood spinal muscular atrophy. Neurology, 46, 335-340.
8. Munsat, T.L. and Davies, K.E. (1994) Spinal muscular atrophy. In Emery, A.E.H. (ed.), Diagnostic criteria for neuromuscular disorders. ENMC, Baarn, The Netherlands.
9. Novelli, G., Capon, F., Levato, C., Cavicchini, A. and Dallapiccola, B. A DNA enzyme immunoassay test for the molecular diagnosis of autosomal recessive spinal muscular atrophy. Clin. Chem., 4, 643-644.
10. Zerres, K. and Rudnik-Schoneborn, S. Natural History in proximal spinal muscular atrophy. (1996) Arch. Neurol., 52, 518-522.
11. Al-Rajeh, S., Bademosi, O., Gascon, G.G. and Stumpf, D. (1992) Werdnig-Hoffman's disease (spinal muscular atrophy type I): a clinical study of 25 Saudi Nationals in Al-Khobar. Ann. Saudi Med., 12, 67-71.
12. Hahen, E., Forkert, R., Marke, C., Rudnik-Schoneborn, S., Schonling, J., Zerres, K. and Wirth, B. (1995) Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN genes in unaffected individuals. Hum. Mol. Genet., 4, 1927-1933.
13. Capon, F., Levato, C., Merlini, L., Angelini, C., Mostacciuolo, M.L., Politano, L., Novelli, G. and Dallapiccola, B. (1996) Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern. Neuromusc. Disord., 6, 261-264.
14. Cobben, J.M., van der Steege, G., 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.
15. Liston, P., Roy, N., Tamai, K., Lefebvre, C., Baird, S., Cherton-Horvat, G., Farahani, R., McLean, M., Ikeda, J.E., MacKenzie, A., and Korneluk, R.G. (1996) Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes. Nature, 379, 16.