Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family

Ping Liu^{a, #},
Hu Li^{b, #},
Xiang Ren^a,
Haiyan Mao^b,
Qihui Zhu^a,
Zhengfeng Zhu^b,
Rong Yang^a,
Wenlin Yuan^b,
Jingyu Liu^a,
Qing Wang^a,
Mugen Liu^{a
, ,}

a.
Key Laboratory of Molecular Biophysics of Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China
b.
The Fourth People's Hospital of Yancheng, Yancheng 224000, Jiangsu, China

More Information

Corresponding author: E-mail address: lium@mail.hust.edu.cn (Mugen Liu)

These authors contributed equally to this work.

摘要

- /
- /
- /
Abstract: The γ-actin (ACTG1) gene is a cytoplasmic nonmuscle actin gene, which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea. Mutations in ACTG1 were found to cause autosomal dominant, progressive, sensorineural hearing loss linked to the DFNA 20/26 locus on chromosome 17q25.3 in European and American families, respectively. In this study, a novel missense mutation (c.364A>G; p.I122V) co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. The alteration of residue Ile122 was predicted to damage its interaction with actin-binding proteins, which may cause disruption of hair cell organization and function. These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum ofACTG1 mutations causing hearing loss.
- non-syndromic hearing impairment (NSHI) /
- linkage /
- sequence analysis /
- restriction fragment length polymorphism (RFLP) analysis
These authors contributed equally to this work.
注释:

HTML全文

参考文献(15)

[1]	Bitner-Glindzicz, M. Hereditary deafness and phenotyping in humans Br. Med. Bull., 63 (2002),pp. 73-94
[2]	Bryan, K.E., Wen, K.K., Zhu, M. et al. J. Biol. Chem., 281 (2006),pp. 20129-20139
[3]	DeRosier, D.J., Tilney, L.G. J. Cell Biol., 109 (1989),pp. 2853-2867
[4]	Feinberg, J., Lebart, M., Benyamin, Y. et al. Localization of a calcium sensitive binding site for gelsolin on actin subdomain I: Implication for severing process Biochem. Biophys. Res. Commun., 233 (1997),pp. 61-65
[5]	Hirokawa, N., Tilney, L.G. Interactions between actin filaments and between actin filaments and membranes in quick-frozen and deeply etched hair cells of the chick ear J. Cell Biol., 95 (1982),pp. 249-261
[6]	Hofer, D., Ness, W., Drenckhahn, D. Sorting of actin isoforms in chicken auditory hair cells J. Cell. Sci., 110 (1997),pp. 765-770
[7]	Holmes, K.C., Popp, D., Gebhard, W. et al. Atomic model of the actin filament Nature, 347 (1990),pp. 44-49
[8]	Khaitlina, S.Y. Functional specificity of actin isoforms Int. Rev. Cytology., 202 (2001),pp. 35-98
[9]	McGough, A., Way, M., DeRosier, D. Determination of the alpha-actinin-binding site on actin filaments by cryoelectron microscopy and image analysis J. Cell. Biol., 126 (1994),pp. 433-443
[10]	Rendtorff, N.D., Zhu, M., Fagerheim, T. et al. Eur. J. Hum. Genet., 14 (2006),pp. 1097-1105
[11]	Tilney, L.G., Egelman, E.H., DeRosier, D.J. et al. Actin filaments, stereocilia, and hair cells of the bird cochlea. II. Packing of actin filaments in the stereocilia and in the cuticular plate and what happens to the organization when the stereocilia are bent J. Cell Biol., 96 (1983),pp. 822-834
[12]	van Wijk, E., Krieger, E., Kemperman, M.H. et al. J. Med. Genet., 40 (2003),pp. 879-884
[13]	Wang, Q., Curran, M.E., Splawski, I. et al. Nat. Genet., 12 (1996),pp. 17-23
[14]	Wang, Q., Shen, J., Splawski, I. et al. Cell, 80 (1995),pp. 805-811
[15]	Zhu, M., Yang, T., Wei, S. et al. Am. J. Hum. Genet., 73 (2003),pp. 1082-1091