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

Journal of Genetics and Genomics

Volumn 35, Issue 9, 2008, Pages 553-558

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

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b First People's Hospital of Yancheng   (China)

Author keywords

ACTG1; linkage; non syndromic hearing impairment (NSHI); restriction fragment length polymorphism (RFLP) analysis; sequence analysis

Indexed keywords

ACTIN; ACTIN BINDING PROTEIN; ISOLEUCINE;

ACTG1 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL FUNCTION; CHINESE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HAIR CELL; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN PROTEIN INTERACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS;

ACTINS; ADOLESCENT; ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 51749098016     PISSN: 16738527     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1673-8527(08)60075-2     Document Type: Article

References (15)

1. Bitner-Glindzicz M. Hereditary deafness and phenotyping in humans. Br. Med. Bull. 63 (2002) 73-94
2. Bryan K.E., Wen K.K., Zhu M., Rendtorff N.D., Feldkamp M., Tranebjaerg L., Friderici K.H., and Rubenstein P.A. Effects of human deafness γ-actin mutations (DFNA20/26) on actin function. J. Biol. Chem. 281 (2006) 20129-20139
3. DeRosier D.J., and Tilney L.G. The structure of the cuticular plate, an in vivo actin gel. J. Cell Biol. 109 (1989) 2853-2867
4. Feinberg J., Lebart M., Benyamin Y., and Roustan C. Localization of a calcium sensitive binding site for gelsolin on actin subdomain I: Implication for severing process. Biochem. Biophys. Res. Commun. 233 (1997) 61-65
5. Hirokawa N., and 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) 249-261
6. Hofer D., Ness W., and Drenckhahn D. Sorting of actin isoforms in chicken auditory hair cells. J. Cell. Sci. 110 (1997) 765-770
7. Holmes K.C., Popp D., Gebhard W., and Kabsch W. Atomic model of the actin filament. Nature 347 (1990) 44-49
8. Khaitlina S.Y. Functional specificity of actin isoforms. Int. Rev. Cytology. 202 (2001) 35-98
9. McGough A., Way M., and DeRosier D. Determination of the alpha-actinin-binding site on actin filaments by cryoelectron microscopy and image analysis. J. Cell. Biol. 126 (1994) 433-443
10. Rendtorff N.D., Zhu M., Fagerheim T., Antal T.L., Jones M., Teslovich T.M., Gillanders E.M., Barmada M., Teig E., Trent J.M., Friderici K.H., Stephan D.A., and Tranebjaerg L. A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. Eur. J. Hum. Genet. 14 (2006) 1097-1105
11. Tilney L.G., Egelman E.H., DeRosier D.J., and Saunder J.C. 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) 822-834
12. van Wijk E., Krieger E., Kemperman M.H., De Leenheer E.M., Huygen P.L., Cremers C.W., Cremers F.P., and Kremer H. A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). J. Med. Genet. 40 (2003) 879-884
13. Wang Q., Curran M.E., Splawski I., Burn T.C., Millholland J.M., VanRaay T.J., Shen J., Timothy K.W., Vincent G.M., de Jager T., Schwartz P.J., Toubin J.A., Moss A.J., Atkinson D.L., Landes G.M., Connors T.D., and Keating M.T. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat. Genet. 12 (1996) 17-23
14. Wang Q., Shen J., Splawski I., Atkinson D., Li Z., Robinson J.L., Moss A.J., Towbin J.A., and Keating M.T. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80 (1995) 805-811
15. Zhu M., Yang T., Wei S., DeWan A.T., Morell R.J., Elfenbein J.L., Fisher R.A., Leal S.M., Smith R.J., and Friderici K.H. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am. J. Hum. Genet. 73 (2003) 1082-1091