Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

Neuromuscular Disorders

Volumn 18, Issue 12, 2008, Pages 922-928

  Hackman, Peter ^a   Marchand, Sylvie ^b   Sarparanta, Jaakko ^a   Vihola, Anna ^a   Pénisson Besnier, Isabelle ^c   Eymard, Bruno ^d   Pardal Fernández, Jose Manuel ^e   Hammouda, El Hadi ^f   Richard, Isabelle ^b   Illa, Isabel ^g   Udd, Bjarne ^a,h,i  

^a UNIVERSITY OF HELSINKI   (Finland)

^b GÉNÉTHON   (France)

^c ANGERS UNIVERSITY HOSPITAL   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

^f AFM   (France)

^g UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^h VAASA CENTRAL HOSPITAL   (Finland)

ⁱ TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

Distal myopathies; Tibial muscular dystrophy; Titin; TTN mutation

Indexed keywords

CONNECTIN;

ADULT; AGED; ARTICLE; CARBOXY TERMINAL SEQUENCE; CORRELATION ANALYSIS; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUSCULAR DYSTROPHY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; STOP CODON;

ADULT; AGED; BASE SEQUENCE; BLOTTING, WESTERN; CODON, NONSENSE; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN KINASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY SCANNERS, X-RAY COMPUTED;

EID: 56949093246     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.07.010     Document Type: Article

References (20)

1. Udd B., Partanen J., Halonen P., et al. Tibial muscular dystrophy - late adult onset distal myopathy in 66 Finnish patients. Arch Neurol 6 (1993) 604-608
2. Haravuori H., Mäkelä-Bengs P., Udd B., et al. Assignment of the tibial muscular dystrophy (TMD) locus on chromosome 2q31. Am J Hum Genet 62 (1998) 620-626
3. Hackman P., Vihola A., Haravuori H., et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 71 (2002) 492-500
4. Bang M.L., Centner T., Fornoff F., et al. The complete gene sequence of titin, expression of an unusual 700 kDa-titin isoform and its interaction with obscurin identify a novel Z-line to I-band linking system. Circ Res 89 (2001) 1065-1072
5. Kolmerer B., Olivieri N., Witt C.C., Herrmann B.G., and Labeit S. Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms. J Mol Biol 256 (1996) 556-563
6. Gautel M., Mues A., and Young P. Control of sarcomeric assembly: the flow of information on titin. Rev Phys Biochem Pharmacol 138 (1999) 97-137
7. Haravuori H., Vihola A., Straub V., et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology 56 (2001) 869-877
8. Van den Bergh P., Bouquiaux O., Verellen C., et al. Tibial muscular dystrophy in a Belgian family. Ann Neurol 54 (2003) 248-251
9. Lange S., Xiang F., Yakovenko A., et al. The kinase domain of titin controls muscle gene expression and protein turnover. Science 308 (2005) 1599-1603
10. Carmignac V., Salih M.A., Quijano-Roy S., et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 61 (2007) 340-351
11. Itoh-Satoh M., Hayashi T., Nishi H., et al. Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem Biophys Res Commun 291 (2002) 385-393
12. Gerull B., Gramlich M., Atherton J., et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 30 (2002) 201-204
13. Marchand S., Hajdari P., Hackman P., Udd B., and Richard I. A touch-down method for high performance sequencing of PCR-products. Analyt Biochemistry 315 (2003) 270-272
14. Griggs R., Vihola A., Hackman P., et al. Zaspopathy in a large classic late-onset distal myopathy family. Brain 130 (2007) 1477-1484
15. Pénisson-Besnier I., Talvinen K., Dumez C., et al. Myotilinopathy in a French late onset distal myopathy family. Neurom Dis 16 (2006) 427-431
16. Wallgren-Pettersson C., Lehtokari V.L., Kalimo H., et al. Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 130 (2007) 1465-1476
17. Lamont P.J., Udd B., Mastaglia F.L., et al. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry 77 (2006) 208-215
18. Pardal-Fernandez J.M., Jerez-Garcia P., Rallo-Gutierrez B., Puentes-Gil J.M., Godes-Medrano B., and Marco-Giner J. Tibial musciular dystrophy with adult late onset in a Spanish family. Electromyogr Clin Neurophysiol 45 (2005) 285-290
19. Udd B., Vihola A., Sarparanta J., Richard I., and Hackman P. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 64 (2005) 636-642
20. Holbrook J., Neu-Yilik G., Hentze M., and Kulozik A. Nonsense-mediated decay approaches the clinic. Nat Genet 36 (2004) 801-808