Molecular genetics applied to clinical practice: The Cx26 hearing impairment

British Journal of Audiology

Volumn 33, Issue 5, 1999, Pages 291-295

  Orzan, Eva ^a   Polli, R ^b   Martella, M ^b   Vinanzi, C ^b   Leonardi, M ^b   Murgia, A ^b  

^a UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^b NONE

Author keywords

Cx26 mutations; Hereditary hearing impairment; Molecular analysis; Pre lingual hearing impairment

Indexed keywords

CONNEXIN 26;

ADOLESCENT; ADULT; AUDIOLOGY; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CONFERENCE PAPER; DISEASE SEVERITY; FAMILY HISTORY; GENE FREQUENCY; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RISK;

EID: 0033399961     PISSN: 03005364     EISSN: None     Source Type: Journal    
DOI: 10.3109/03005369909090112     Document Type: Conference Paper

References (8)

1. Cohn ES et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene. Pediatrics 1999; 103: 546-50.
2. Denoyelle F, Weil D, Maw AM, Wilcox SA, Lench NJ, Allen-Powell DR et al. Prelingual deafness; high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997; 6: 2173-7.
3. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian E et al. Clinical features of the prevalent form of childhood deafness, DNFB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999; 353: 1298-1303.
4. Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998; 51: 394-8.
5. Fortnum H, Davis A, Epidemiology of permanent childhood hearing impairment in the Trent region 1985-1993. Br J Audiol 1997; 31: 409-46.
6. Lench N, Houseman M, Newton V, Van Camp G, Mueller R. Connexin 26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 1998; 51: 415.
7. Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E et al. Cx26 deafness: mutation analysis and clinical variability. J Med Genet 1999; in press.
8. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N et al. Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness DFNB1 in mediterranean's. Hum Mol Genet 1997; 6: 1605-9.