Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Nature

Volumn 387, Issue 6628, 1997, Pages 80-83

  Kelsell, D P ^a,e   Dunlop, J ^a   Stevens, H P ^a   Lench, N J ^b   Liang, J N ^c   Parry, G ^d   Mueller, R F ^b   Leigh, I M ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ST LUKE S HOSPITAL   (United Kingdom)

^e GLAXOSMITHKLINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN;

ARTICLE; COCHLEA; GENE EXPRESSION; GENE MUTATION; HUMAN; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN SYNTHESIS; STOP CODON;

EID: 0031007349     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/387080a0     Document Type: Article

References (22)

1. Morton, N. E. Genetic epidemiology of hearing impairment. Ann. N.Y. Acad. Sci. 630, 16-31 (1991).
2. Tassabehji, M. et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355, 635-636 (1992).
3. Tassabehji, M. et al. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nature Genet. 3, 26-30 (1993).
4. Weil, D. et al. Defective myosin VIIA gene responsible for Usher syndrome 1B. Nature 374, 60-61 (1995).
5. Verbov, J. Palmoplantar keratoderma, deafness and atopy. Br. J. Dermatol. 116, 881-882 (1987).
6. Fitzgerald, D. A. & Verbov, J. L. Hereditary palmoplantar keratoderma with deafness. Br. J. Dermatol. 134, 939-942 (1996).
7. Guilford, P. et al. A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum. Mol. Genet. 3, 989-993 (1994).
8. Chaib, H. et al. A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to NSRD1 recessive deafness gene interval. Hum. Mol. Genet. 3, 2219-2222 (1994).
9. Kibar, Z. et al. The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Hum. Mol. Genet. 5, 543-547 (1996).
10. Mignon, C. et al. Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-q12. Cytogenet. Cell Genet. 72, 185-186 (1996).
11. Kumar, N. M. & Gilula, N. B. The gap junction communication channel. Cell 84, 381-388 (1996).
12. Beyer, E. C. Gap junction. Int. Rev. Cytol. 137, 231-242 (1993).
13. Kumar, N. M. & Gilula, N. B. Molecular biology and genetics of gap junction channels. Semin. Cell Biol. 3, 3-16 (1992).
14. Risek, B., Klier, F. G. & Gilula, N. B. Multiple gap junction genes are utilized during rat skin and hair development. Development 116, 639-651 (1992).
15. Goliger, J. A. & Paul, D. L. Expression of gap junction proteins Cx26, Cx31.1, Cx37, and Cx43 in developing and mature epidermis. Dev. Dyn. 200, 1-13 (1994).
16. Yeager, M. & Nicholson, B. J. Structure of gap junction intercellular channels. Curr. Opin. Struct. Biol. 6, 183-192 (1996).
17. Markey, A. C., Lane, E. B., MacDonald, D. M. & Leigh, I. M. Keratin expression in basal cell carcinomas. Br. J. Dermatol. 126, 154-160 (1992).
18. Kikuchu, T., Kimar, R. S., Paul, D. L. & Adams, J. C. Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat. Embryol. 191, 101-118 (1995).
19. Brown, K. A. et al. Linkage studies in non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. Hum. Mol. Genet. 5, 169-173 (1996).
20. Petit, C. Genes responsible for human hereditary deafness: a symphony of a thousand. Nature Genet. 14, 385-391 (1996).
21. Bergoffen, J. et al. Connexin mutations in X-linked Charcot-Marie-Tooth Disease. Science 262, 2039-2041 (1993).
22. Britz-Cunningham, S. H., Shah, M. M., Zuppan, C. W. & Fletcher, W. H/ Mutations of the connexin-43 gap function gene in patients with heart malformations and defects of laterality. N. Engl. J. Med. 332, 1323-1329 (1995).