Cx26 deafness: Mutation analysis and clinical variability

Journal of Medical Genetics

Volumn 36, Issue 11, 1999, Pages 829-832

  Murgia, A ^a   Orzan, E ^a   Polli, R ^a   Martella, M ^a   Vinanzi, G ^a   Leonardi, E ^a   Arslan, E ^a   Zacchello, F ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

Connexin 26; Hearing impairment; Mutation detection; Non syndromic sensorineural autosomal recessive deafness

Indexed keywords

CONNEXIN 26;

ADULT; ARTICLE; CHILD; CLINICAL FEATURE; CONGENITAL DEAFNESS; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONNEXINS; DEAFNESS; FEMALE; GAP JUNCTIONS; HUMANS; MALE; MUTATION; PEDIGREE;

EID: 0032727332     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Fortnum H, Davis A. Epidemiology of permanent childhood hearing impairment in Trent region 1985-1993. Br J Audiol 1997;31:409-16.
2. Cohen MM, Gorlin RJ. Epidemiology, etiology and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM, eds. Hereditary hearing loss and its syndromes. Oxford: Oxford University Press 1995:9-21.
3. Arslan E, Orzan E. The audiological approach to genetic hearing impairment in children. In: Martini A, Read A, Stephens D, eds. Genetics and hearing impairment. London: Whurr, 1996:82-91.
4. Petit C. Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet 1996;14:385-91.
5. Hereditary Hearing Loss Homepage; http://hgins.uia.ac.be/dnalab/hhh/nonsyndr.html
6. Van Camp G, Willems PJ, Smith RJH. Non-syndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1997;60:758-64.
7. Carasquillo MM, Zlotogora J, Barges S, Chakravarti A. Two different connexin 26 mutations in an inbred kindred segregating nonsyndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 1997;6:2163-72.
8. Denoyelle F, Weil D, Maw AM, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6:2173-7.
9. Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394-8.
10. Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene that cause autosomal recessive hearing loss. Am J Hum Genet 1998;62:792-9.
11. Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJH. Connexin mutations and hearing loss. Nature 1998;391:32.
12. Zelante L, Gasparini P, Estivill X, et al. Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness DFNB1 in Mediterraneans. Hum Mol Genet 1997;6:1605-9.
13. Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. nature 1998;387:80-3.
14. Denoyelle F, Lina-Granade G, Plauchu H, et al. Connexin 26 gene linked to a dominant deafness. Nature 1998;393:319-20.
15. Ganguly A, Rock JM, Prockop JD. Conformation sensitive gel electrophoresis for rapid detection of single-base difference in double-stranded PCR products and DNA fragments: evidence for solvent-induced bands in DNA heteroduplexes. Genetics 1993;90:10325-9.
16. Reardon W. Connexin 26 gene mutations and autosomal recessive deafness. Lancet 1998;351:383-4.
17. Lench N, Houseman M, Newton V, Van Camp G, Mueller R. Connexin 26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 1998;351:415.