Limb girdle muscular dystrophy 2G in a religious minority of bulgarian muslims homozygous for the c.75g>a, p. trp25x mutation
Keywords:
TCAP gene, LGMD2G, Bulgarian Muslims, AsymmetryAbstract
Mutations in TCAP gene cause autosomal recessive limbgirdle muscular dystrophy type 2G (LGMD2G), congenital muscular dystrophy and autosomal dominant dilated and hypertrophic cardiomyopathy. We studied 18 affected individuals from 12 pedigrees, belonging to a Bulgarian Muslim minority from the South-West of Bulgaria, homozygous for the c.75G>A, p.Trp25X mutation in TCAP gene. The heterozygous carrier rate of p.Trp25X among 100 newborns in this region was found to be 2%. The clinical features in the Bulgarian TCAP group include disease onset in the first to the third decade of life, proximal muscle weakness in the lower limbs, followed or accompanied by difficulties in ankle dorsiflexion and involvement of the proximal muscles of the upper limbs 5–9 years after the disease onset. Asymmetry between left and right was present in more than 20% of the affected. Respiratory and cardiac functions were not affected
References
Bos, J. M., Poley, R. N., Ny, M., Tester, D., J., Xu, X., Vatta, M. et al. Genotype- phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Genet Metab 2006, 88, 78–85.
Cotta, A., Paim, J.F., da-Cunha-Junior, A.L., Neto, R.X., Nunes, S.V., Navarro, M.M. et al. Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. BMC Clin Pathol 2014, 14, 41.
De Fuenmayor-Fernández de la Hoz, C.P., Hernández-Laín, A., Olivé, M., Fernández-Marmiesse, A., Domínguez-González, C. Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions. Neuromuscul Disord 2016, 26, 11, 749–53.
Ferreiro, A., Mezmezian, M., Olivé, M., Herlicoviez, D., Fardeau, M., Richard, P. et al. Telethonin-deficiency initially presenting as a congenital muscular dystrophy. Neuromuscul Disord 2011, 21, 6, 433–8.
Francis, A., Sunitha, B., Vinodh, K., Polavarapu, K., Katkam, S.K., Modi, S. et al. Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. PLoS ONE 2014, 9.
Hayashi, T., Arimura, T., Itoh- Satoh, M., Ueda, K., Hohda, S., Inagaki, N. et al. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol 2004, 44, 21, 92–201.
Ikenberg, E., Karin, I., Ertl- Wagner, B., Abicht, A., Buls,t S., Sabine, K. et al. Rare diagnosis of telethoninopathy (LGMD 2G) in a Turkish patient. Neuromuscul Disord 2017, 27, 9, 856–60.
Knöll, R., Hoshijima, M., Hoffman, H.M., Person, V., Lorenzen-Schmidt, I., Bang, M.L. et al. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 2002, 111, 943–55.
Moreira, E. S., Vainzof, M., Marie ,S.K., Sertié, A.L., Zatz, M., Pas-sos-Bueno, M.R. The seventh form of autosomal recessivelimb-girdle muscular dystrophy is mapped to 17q11–12. Am J Hum Genet 1997, 61, 151–9.
Moreira, E.S., Wiltshire, T.J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O.T, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric proteintelethonin. NatGenet 2000, 24, 163–6.
Mason, P., Bayol, S., Loughna, P.T. The novel sarcomeric protein telethonin exhibitsdevelopmental and functional regulation. Biochem Biophys Res Commun 1999, 257, 699–703.
Negrao, L., Matos, A., Geraldo, A., Rebelo, O. Limb-girdle musculardystrophy in a Portuguese patient caused by a mutation in the telethonin gene. Acta Myol 2010, 29, 21–4.
Olivé, M., Shatunov, A., Gonzalez, L., Carmona, O., Moreno, D., Quereda, L.G. et al. Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. Neuromus- cul Disord 2008, 18, 12, 929–33.
Paim, J.F., Cotta, A., Vargas, A.P., Navarro, M.M., Valicek, J., Carvalho, E. et al. Muscle phenotypic variability in limb girdle muscular dystrophy 2G. J Mol Neurosci 2013, 50, 2, 339–44.
Todorova, A., Ashikov, A., Beltchev,a O., Tournev, I., Kremensky, I. C283Y mutation and other C-terminal nucleotide changes in the gsarcoglycan gene in the Bulgarian Gypsy population. Hum Mutat 1999, 14, 40–4.
Valle, G., Faulkner, G., De Antoni, A., Pacchioni, B., Pallavicini, A., Pan-dolfo, D. et al. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. FEBS Lett 1997, 415, 163–8.
Vainzof, M., Moreira, E.S., Suzuki, O.T., Faulkner, G., Valle, G., Beggs, A.H. et al. Telethonin protein expression inneuromuscular disorders. Biochim Biophys Acta 2002, 1588, 33–40.
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