Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

Nature Genetics

Volumn 20, Issue 3, 1998, Pages 299-303

  Robertson, Nahid G ^a   Lu, Leonard ^b   Heller, Stefan ^c   Merchant, Saumil N ^d   Eavey, Roland D ^d   McKenna, Michael ^d   Nadol Jr , Joseph B ^d   Miyamoto, Richard T ^e   Linthicum Jr , Frederick H ^f   Lubianca Neto, José F ^d   Hudspeth, A J ^c   Seidman, Christine E ^a   Morton, Cynthia C ^a   Seidman, J G ^b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c ROCKEFELLER UNIVERSITY   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e INDIANA UNIVERSITY   (United States)

^f HOUSE EAR INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR; CYSTEINE;

AMINO ACID ANALYSIS; ARTICLE; COCHLEA; CONTROLLED STUDY; FEMALE; GENE ISOLATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; INNER EAR; MALE; MISSENSE MUTATION; NEUROEPITHELIUM; NUCLEOTIDE SEQUENCE; PEDIGREE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; VESTIBULAR DISORDER;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHICKENS; CONSERVED SEQUENCE; DNA PRIMERS; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; VESTIBULE;

EID: 17344363707     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/3118     Document Type: Article

References (29)

1. Cohen, M.M. & Gorlin, R.J. Epidemiology, etiology, and genetic patterns, in Hereditary Hearing Loss and Its Syndromes (eds Gorlin, R.J., Toriello, H.V. & Cohen, M.M.) 9-21 (Oxford University Press, New York, 1995).
2. Petit, C. Genes responsible for human hereditary deafness: symphony of a thousand. Nature Genet. 14, 385-391 (1996).
3. Van Camp, G., Willems, P.J. & Smith, R.J.H. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am. J. Hum. Genet. 60, 758-764 (1997).
4. Liu, X.-Z. et al. Mutations in the myosin VIIA gene cause nonsyndromic recessive deafness. Nature Genet. 16, 183-190 (1997).
5. Weil, D. et al. The autosomal recessive isolated deafness, DFNB2, and the Usher IB syndrome are allelic defects of the myosin VIIA gene. Nature Genet. 16, 191-193 (1997).
6. Liu, X.-Z. et al. Autosomal dominant nonsyndromic deafness caused by a mutation in the myosin VIIA gene. Nature Genet. 17, 268-269 (1997).
7. Wang, A. et al. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3 [see comments]. Science 280, 1447-1451 (1998).
8. Kelsell, D.P. et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387, 80-83 (1997).
9. Scott, D.A., Kraft, M.L., Stone, E.M., Sheffield, V.C. & Smith, R.J.H. Connexin mutations and hearing loss. Nature 391, 32 (1998).
10. Kelley, P.M. et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am. J. Hum. Genet. 62, 792-799 (1998).
11. Denoyelle, F. et al. Connexin 26 gene linked to a dominant deafness. Nature 393, 319-320 (1998).
12. Lynch, E.D. et al. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 278, 1315-1318 (1997).
13. Li, X.C. et al. A mutation in PDS causes nonsyndromic recessive deafness. Nature Genet. 18, 215-217 (1998).
14. Vahava, O. et al. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279, 1950-1954 (1998).
15. Verhoeven, K. et al. Mutations in the human α-tectorin gene cause autosomal dominant nonsyndromic hearing impairment. Nature Genet. 19, 60-62 (1998).
16. Robertson, N.G., Khetarpal, U., Gutiérrez-Espeleta, G.A., Bieber, F.R. & Morton, C.C. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Genomics 23, 42-50 (1994).
17. Robertson, N.G. et al. Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. Genomics 46, 345-354 (1997).
18. Manolis, E.N. et al. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Hum. Mol. Genet. 5, 1047-1050 (1996).
19. Khetarpal, U., Schuknecht, H.F., Gacek, R.R. & Holmes, LB. Autosomal dominant sensorineural hearing loss: pedigrees, audiologic and temporal bone findings in two kindreds. Arch. Otolaryngol. Head Neck Surg. 117, 1032-1042 (1991).
20. Khetarpal, U. Autosomal dominant sensorineural hearing loss: further temporal bone findings. Arch. Otolaryngol. Head Neck Surg. 119, 106-108 (1993).
21. Halpin, C., Khetarpal, U. & McKenna, M. Autosomal dominant progressive sensorineural hearing loss in a large North American Family. Am. J. Audiol. 5, 105-111 (1996).
22. Colombatti, A. & Paolo, B. The superfamily of proteins with von Willebrand factor type A-like domains: one theme common to components of extracellular matrix, hemostasis, cellular adhesion, and defense mechanisms. Blood 77, 2305-2315 (1991).
23. Colombatti, A., Bonaldo, P. & Doliana, R. Type A modules: interacting domains found in several non-fibrillar collagens and in other extracellular matrix proteins. Matrix 13, 297-306 (1993).
24. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403-410 (1990).
25. Muta, T. et al. Limulus factor C: an endotoxin-sensitive serine protease zymogen with a mosaic structure of complement-like, epidermal growth factor-like, and lectin-like domains. J. Biol. Chem. 266, 6554-6561 (1991).
26. Iwanaga, S., Miyata, T., Tokunaga, F. & Muta, T. Molecular mechanism of hemolymph clotting system in Limulus. Thrombosis Res. 68, 1-32 (1992).
27. Nakamura, T. et al. Intracellular serine-protease zymogen, factor C. from horseshoe crab hemocytes: its activation by synthetic lipid A analogues and acidic phospholipids. Eur. J. Biochem. 176, 89-94 (1988).
28. Schaeren-Wiemers, N. & Gerfin-Moser, A. A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labeled cRNA probes. Histochemistry 100, 431-440 (1993).
29. Benson, D.W. et al. Missense mutation in the pore region of HERG causes familial long QT syndrome. Circulation 93, 1791-1795 (1996).