A patient with congenital myopathy caused by a mutation in the CRYAB gene, leading to the development of alpha-b crystallinopathy
Keywords:
congenital myopathy, CRYAB gene, alpha-BcrystallinAbstract
Myofibrillar myopathies (MFMs) are a group of dominant, inherited, degenerative diseases of skeletal and cardiac muscle characterized by intracellular protein accumulation, myofibril disintegration, desmin-reactive aggregation of degraded filaments into pleomorphic granular or hyaline inclusions, and ectopic expression of numerous Z-disc-associated and other proteins. The molecular basis of MFM is heterogeneous and mutations have been identified in genes encoding sarcomeric Z-disc proteins, including desmin (DES), alpha-B crystallin (CRYAB), myotilin (TTID), ZASP (LDB3), filamin C (FLNC), and Bcl-2-associated athanogen-3 protein (BAG3).
We present a 34-year-old patient with the onset of the disease in infancy, manifested by hypomimic facies, nasal speech, muscle hypotonia, muscle weakness mainly in the proximal muscles of the upper limbs, with cardiac and respiratory affected function.
References
Inagaki, N., Hayashi, T., Arimura, T., Koga, Y., Takahashi, M., Shibata, H., Teraoka, K., Chikamori, T., Yamashina, A., Kimura, A. Alpha-β crystallin mutation in dilated cardiomyopathy. Biochem. Biophys. Res. Commun, 2006, 342, 379-386.
Jiaox, X., Khan, S.Y., Irum, B., Khan, O., Wang, Q., Kabir, F., Khan, A., Husnain, T., Akram, J., Riazuddin, S., Hejtmancik, F., Riazuddin, A. Missense mutations in CRYAB are liable for recessive congenital cataracts. PLoS One, 2015, 24, e0137973.
Pilotto, A., Marziliano, N., Pasotti, M., Grasso, M., Costante, M., Arbustini, E. AlphaBcrystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands. Biochem Biophys Res Commun, 2006, 346, 4, 1115-1117.
Pruszczyk, P., Kostera-Pruszczyk, A., Shatunov, A., Goudeau, B., Draminska, A., Takeda, K., Sambuughin, N., Vicart, P., Strelkov, V., Goldfarb, G., Kaminska, A. Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. Int. J. Cardiol, 2007, 117, 244-253.
Reilich, P., Schoser, B., Schramm N., Krause, S., Schessl, J., Kress, W., Müller-Höcker, J., Walter, M., Lochmuller, H. The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy, 2010, 20, 4, 255-259.
Schroder, R., Schoser, B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol, 2009, 19, 3, 483-492.
Schröder, R., Schoser, B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol, 2009, 19, 483-492.
Selcen, D., Engel, G. Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol, 2003, 54, 6, 804-810.
Vicart, P., Caron, A., Guicheney, P., Li, Z., Prevost, C., Faure, A., Chateau, D., Chapon, F., Tomé, F., Dupret, M., Paulin, D., Fardeau, M. A missense mutation in the alphaβ-crystallin chaperone gene causes a desmin-related myopathy. Nat. Genet, 1998, 20, 92-95.
