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References
Baek, J.I., Oh, S.K., Kim, D.B., Choi, S.Y., Kim, U.K., Lee, K.Y., and Lee, S.H. (2012). Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. Orphanet J Rare Dis 7, 60.
Hofer, D., Ness, W., and Drenckhahn, D. (1997). Sorting of actin isoforms in chicken auditory hair cells. J Cell Sci 110, 765–770.
Lambrechts, A., Van Troys, M., and Ampe, C. (2004). The actin cytoskeleton in normal and pathological cell motility. Int J Biochem Cell Biol 36, 1890–1909.
Liu, P., Li, H., Ren, X., Mao, H., Zhu, Q., Zhu, Z., Yang, R., Yuan, W., Liu, J., Wang, Q., and Liu, M. (2008). Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. J Genets Genomics 35, 553–558.
Park, G., Gim, J., Kim, A.R., Han, K.H., Kim, H.S., Oh, S.H., Park, T., Park, W.Y., and Choi, B.Y. (2013). Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. BMC Genomics 14, 191.
Perrin, B.J., and Ervasti, J.M. (2010). The actin gene family: function follows isoform. Cytoskeleton 67, 630–634.
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., Rehm, H.L., and Rehm, H.L. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17, 405–423.
Riviere, J.B., van Bon, B.W., Hoischen, A., Kholmanskikh, S.S., O’Roak, B.J., Gilissen, C., Gijsen, S., Sullivan, C.T., Christian, S.L., Abdul-Rahman, O.A., Atkin, J.F., Chassaing, N., Drouin-Garraud, V., Fry, A.E., Fryns, J.P., Gripp, K.W., Kempers, M., Kleefstra, T., Mancini, G.M., Nowaczyk, M.J., van Ravenswaaij-Arts, C.M., Roscioli, T., Marble, M., Rosenfeld, J.A., Siu, V.M., de Vries, B.B., Shendure, J., Verloes, A., Veltman, J.A., Brunner, H.G., Ross, M.E., Pilz, D.T., and Dobyns, W.B. (2012). De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 44, 440–444, S441–S442.
Wang, H., Zhao, Y., Yi, Y., Gao, Y., Liu, Q., Wang, D., Li, Q., Lan, L., Li, N., Guan, J., Yin, Z., Han, B., Zhao, F., Zong, L., Xiong, W., Yu, L., Song, L., Yi, X., Yang, L., Petit, C., and Wang, Q. (2014). Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss. PLoS ONE 9, e103133.
Yuan, Y., Gao, X., Huang, B., Lu, J., Wang, G., Lin, X., Qu, Y., and Dai, P. (2016). Phenotypic heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation. BMC Genet 17, 33.
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This work was supported by the National Natural Science Foundation of China (81530032) and the National Key Basic Research Program of China (2014CB943001).
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Wang, H., Guan, J., Lan, L. et al. A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases. Sci. China Life Sci. 61, 729–732 (2018). https://doi.org/10.1007/s11427-017-9165-2
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DOI: https://doi.org/10.1007/s11427-017-9165-2