Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

Neuromuscular Disorders

Volumn 9, Issue 8, 1999, Pages 573-579

  Tan, P ^a   Briner, J ^b   Boltshauser, E ^c   Davis, M R ^d   Wilton, S D ^a   North, K ^e   Wallgren Pettersson, C ^f   Laing, N G ^a  

^a PATHWEST LABORATORY MEDICINE   (Australia)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^c Department of Pediatrics   (Switzerland)

^d ROYAL PERTH HOSPITAL   (Australia)

^e CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^f UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Alpha tropomyosin slow; Nonsense mutation; Recessive nemaline myopathy

Indexed keywords

TROPOMYOSIN;

ARTICLE; ELECTRON MICROSCOPY; GENE MUTATION; HISTOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; NEMALINE MYOPATHY; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

FATAL OUTCOME; GENETIC SCREENING; HOMOZYGOTE; HUMANS; INFANT; MALE; MUSCLE, SKELETAL; MUTATION; MUTATION, MISSENSE; MYOPATHIES, NEMALINE; TROPOMYOSIN; VARIATION (GENETICS);

EID: 0032723891     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00053-X     Document Type: Article

References (32)

1. Shy G., Engel W., Somers J., Wanko T. Nemaline myopathy: a new congenital myopathy. Brain. 86:1963;793-810.
2. Conen P.E., Murphy E.G., Donohue W.L. Light and electron microscopic studies of 'myogranules' in a child with hypotonia and muscle weakness. Can Med Ass J. 89:1963;983-986.
3. Wallgren-Pettersson C. Congenital nemaline myopathy: a clinical follow-up study of twelve patients. J Neurol Sci. 89:1989;1-14.
4. North K.N., Laing N.G., Wallgren-Pettersson C., et al. Nemaline myopathy: current concepts. J Med Genet. 34:1997;705-713.
5. Wallgren-Petterson C., Laing N.G. Inherited neuromuscular disorders: clinical and molecular genetics. Emery A.E.H. Nemaline myopathy. 1998;247-262 Wiley, Chichester.
6. Yamaguchi M., Robson R.M., Stromer M.H., Dahl D.S., Oda T. Nemaline myopathy rod bodies: structure and composition. J Neurol Sci. 56:1982;35-56.
7. Laing N.G. Inherited disorders of contractile proteins in skeletal and cardiac muscle. Curr Opin Neurol. 8:1995;391-396.
8. Wallgren-Pettersson C., Laing N.G. Report on the 40th ENMC sponsored international workshop: nemaline myopathy. Neuromusc Disord. 6:1996;389-391.
9. Laing N.G., Majda B.T., Akkari P.A., et al. Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1. Am J Hum Genet. 50:1992;576-583.
10. Laing N.G., Wilton S.D., Akkari P.A., et al. A mutation in the α-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 9:1995;75-79.
11. Wallgren-Pettersson C., Avela K., Marchand S., et al. A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromusc Disord. 5:1995;441-443.
12. Pelin K., Hilpelä P., Donner K., et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA. 96:1999;2305-2310.
13. Wallgren-Pettersson C., Beggs A.H., Laing N.G. 51st ENMC International workshop: nemaline myopathy. Neuromusc Disord. 8:1998;53-56.
14. Miller S., Dykes D., Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res. 16:1988;1215.
15. Lahiri D.K., Nurnberger J.I. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucl Acids Res. 19:1991;5444.
16. Clayton L., Reinach F.C., Chumbley G.M., MacLeod A.R. Organization of the hTMnm gene. Implications for the evolution of muscle and non-muscle tropomyosins. J Mol Biol. 201:1988;507-515.
17. Wilton S.D., Lim L., Dye D., Laing N. Bandstab: a PCR-based alternative to cloning PCR products. Biotechniques. 22:1997;642-645.
18. Jay V., Becker L.E. Fibre-type differentiation by myosin immunohistochemistry on paraffin-embedded skeletal muscle. Arch Pathol Lab Med. 118:1994;917-918.
19. Orita M., Suzuki Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 5:1989;874-879.
20. Dryja T.P., McGee T.L., Hahn L.B., et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. New Engl J Med. 323:1990;1302-1307.
21. Rosenfeld P.J., Cowley G.S., McGee T.L., Sandberg M.A., Berson E.L., Dryja T.P. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1:1992;209-213.
22. Rifai Z., Kazee A.M., Kamp C., Griggs R.C. Intranuclear rods in severe congenital nemaline myopathy. Neurology. 43:1993;2372-2377.
23. Arts W.F., de Groot C.J. Congenital nemaline myopathy: two patients with consanguineous parents, one with a progressive course. J Neurol. 230:1983;123-130.
24. Schmalbruch H., Kamieniecka Z., Arroe M. Early fatal nemaline myopathy: case report and review. Dev Med Child Neurol. 29:1987;800-804.
25. Bodensteiner J.B. Congenital myopathies. Muscle Nerve. 17:1994;131-144.
26. Reinach F.C. Nemaline myopathy mechanisms. Nat Genet. 10:1995;8.
27. Dietz H.C. Nonsense mutations and altered splice-site selection. Am J Hum Genet. 60:1997;729-730.
28. Czaplinski K., Ruizechevarria M.J., Paushkin S.V., et al. The surveillance complex interacts with the translation release factors to enhance termination and degrade aberrant mRNAs. Genes Dev. 12:(11):1998;1665-1677.
29. Greenfield N.J., Stafford W.F., Hitchcock-DeGregori S.E. The effect of N-terminal acetylation on the structure of an N-terminal tropomyosin peptide and α-tropomyosin. Prot Sci. 3:1994;402-410.
30. MacLeod A.R., Gooding C. Human hTM( gene: expression in muscle and non-muscle tissue. Mol Cell Biol. 8:1988;433-440.
31. Gunning P., Gordon M., Wade R., Gahlmann R., Lin C.S., Hardeman E. Differential control of tropomyosin mRNA levels during myogenesis suggests the existence of an isoform competition-autoregulatory compensation control mechanism. Dev Biol. 138:1990;443-453.
32. Dunglison G., Corbett M., Yang N., et al. Development of a transgenic mouse model for human nemaline myopathy. Muscle Nerve. Suppl 7:1998;S184.