Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients

Auris Nasus Larynx

Volumn 32, Issue 2, 2005, Pages 113-117

  Asamura, Kenji ^a   Abe, Satoko ^b   Fukuoka, Hisakuni ^a   Nakamura, Yusuke ^b   Usami, Shin Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

COL9A3; Hearing loss; Mutation screening

Indexed keywords

AMINO ACID; COLLAGEN DERIVATIVE; COLLAGEN TYPE 9A3; UNCLASSIFIED DRUG;

ARTICLE; COCHLEA; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PERCEPTION DEAFNESS; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; ASPARTIC ACID; BASE SEQUENCE; COCHLEA; COLLAGEN TYPE IX; DNA MUTATIONAL ANALYSIS; GENE DELETION; GLUTAMIC ACID; GLYCINE; HEARING LOSS, SENSORINEURAL; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PROLINE;

EID: 19444375650     PISSN: 03858146     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.anl.2005.01.011     Document Type: Article

References (26)

1. S. Abe, T. Katagiri, A. Saito-Hisaminato, S. Usami, Y. Inoue, and T. Tsunoda Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues Am J Hum Genet 72 2003 73 82
2. S. Abe, S. Usami, and Y. Nakamura Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss J Hum Genet 48 2003 564 570
3. N.B. Slepecky, J.E. Savage, L.K. Cefaratti, and T.J. Yoo Electron-microscopic localization of type II, IX, and V collagen in the organ of Corti of the gerbil Cell Tissue Res 267 1992 413 418
4. N.B. Slepecky, J.E. Savage, and T.J. Yoo Localization of type II, IX and V collagen in the inner ear Acta Otolaryngol 112 1992 611 617
5. M. van der Rest, and R. Mayne Type IX collagen proteoglycan from cartilage is covalently cross-linked to type II collagen J Biol Chem 263 1988 1615 1618
6. D.R. Eyre, J.J. Wu, R.J. Fernandes, T.A. Pietka, and M.A. Weis Recent developments in cartilage research: matrix biology of the collagen II/IX/XI heterofibril network Biochem Soc Trans 30 2002 893 899
7. J.J. Wu, P.E. Woods, and D.R. Eyre Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding J Biol Chem 267 1992 23007 23014
8. P. Paassilta, T. Pihlajamaa, S. Annunen, R.G. Brewton, B.M. Wood, and C.C. Johnson Complete sequence of the 23-kilobase human COL9A3 gene: detection of Gly-X-Y triplet deletions that represent neutral variants J Biol Chem 274 1999 22469 22475
9. P. Paassilta, J. Lohiniva, S. Annunen, J. Bonaventure, M. Le Merrer, and L. Pai COL9A3: a third locus for multiple epiphyseal dysplasia Am J Hum Genet 64 1999 1036 1044
10. C.G. Bonnemann, G.F. Cox, F. Shapiro, J.J. Wu, C.A. Feener, and T.G. Thompson A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy Proc Natl Acad Sci USA 97 2000 1212 1217
11. M.D. Briggs, and K.L. Chapman Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations Hum Mutat 19 2002 465 478
12. Asamura K, Abe S, Imamura Y, Aszodi A, Suzuki N, Hashimoto S, et al. Type IX collagen is crucial for normal hearing loss. Neuroscience, in press.
13. Suzuki N, Asamura K, Kikuchi Y, Takumi Y, Abe S, Imamura Y, et al. Type IX collagen knock-out mouse shows progressive hearing loss. Neurosci Res, in press.
14. X.Z. Liu, J. Walsh, P. Mburu, J. Kendrich-Jones, M.J. Cope, and K.P. Steel Mutations in the myosin VIIA gene cause non-syndromic recessive deafness Nat Genet 16 1997 188 190
15. M.D. Weston, P.M. Kelley, L.D. Overbeck, M. Wagenaar, D.J. Orten, and T. Hasson Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients Am J Hum Genet 59 1996 1074 1083
16. C.J. Williams, A. Ganguly, E. Considine, S. McCarron, D.J. Prockop, and C. Walsh-Vockley A-2→G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred Am J Med Genet 63 1996 461 467
17. A.J. Richards, J.R. Yates, R. Williams, S.J. Payne, F.M. Pope, and J.D. Scott A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen Hum Mol Genet 5 1996 1339 1343
18. M. Vikkula, E.C. Mariman, V.C. Lui, N.I. Zhidkova, G.E. Tiller, and M.B. Goldring Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus Cell 80 1995 431 437
19. T. Mochizuki, H.H. Lemmink, M. Mariyama, C. Antignac, M.C. Gubler, and Y. Pirson Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome Nat Genet 8 1994 77 81
20. D.F. Barker, S.L. Hostikka, J. Zhou, L.T. Chow, A.R. Oliphant, and S.C. Gerken Identification of mutations in the COL4A5 collagen gene in Alport syndrome Science 248 1990 1224 1227
21. W.T. McGuirt, S.D. Prasad, A.J. Griffith, H.P. Kunst, G.E. Green, and K.B. Shpargel Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13) Nat Genet 23 1999 413 419
22. I. Thalmann Collagen of accessory structures of organ of Corti Connect Tissue Res 29 1993 191 201
23. D. Cosgrove, G. Samuelson, and J. Pinnt Immunohistochemical localization of basement membrane collagens and associated proteins in the murine cochlea Hear Res 97 1996 54 65
24. R.J. Goodyear, and G.P. Richardson Extracellular matrices associated with the apical surfaces of sensory epithelia in the inner ear: molecular and structural diversity J Neurobiol 53 2002 212 227
25. E.M. De Leenheer, W.T. McGuirt, H.P. Kunst, P.L. Huygen, R.J. Smith, and C.W. Cremers The phenotype of DFNA13/COL11A2 Adv Otorhinolaryngol 61 2002 85 91
26. R.J. Admiraal, Y.M. Szymko, A.J. Griffith, H.G. Brunner, and P.L. Huygen Hearing impairment in Stickler syndrome Adv Otorhinolaryngol 61 2002 216 223