Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling

Lancet

Volumn 353, Issue 9161, 1999, Pages 1298-1303

  Denoyelle, Françoise ^a,c   Mariin, Sandrine ^b   Weil, Dominique ^a   Moatti, Luden ^b   Chauvin, Pierre ^a   Garabédian, Éréa Noel ^a   Petit, Christine ^a  

^a INSTITUT PASTEUR   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

ADOLESCENT; ADULT; ARTICLE; AUDIOMETRY; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL FEATURE; CONGENITAL DEAFNESS; EXON; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; HUMAN; INNER EAR; MAJOR CLINICAL STUDY; MALE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SIBLING;

EID: 0033577528     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(98)11071-1     Document Type: Article

References (27)

1. Parving A. Hearing disorders in childhood, some procedures for detection, identification and diagnostic evaluation. Int J Pediatr Otorhinolaryngol 1985; 9: 31-57.
2. Pabla HS, McCormick B, Gibbin KP. Retrospective study of the prevalence of bilateral sensorineural deafness in childhood. Int J Pediatr Otorhinolaryngol 1991; 22: 161-65.
3. Vartiainen E, Kemppinen P, Karjalainen S. Prevalence and etiology of bilateral sensorineural hearing impairment in a Finnish childhood population. Int J Pediatr Otorhinolaryngol 1998; 41: 175-85.
4. Petit C. Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet 1996; 14: 385-91.
5. Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387: 80-83.
6. Liu X-Z, Walsh J, Mburu P, et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997; 16: 188-90.
7. Weil D, Küssel P, Blanchard S, et al. The autosomal recessive isolated deafness, DFNB2, and the Usher l B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997; 16: 191-93.
8. Wang A, Liang Y, Fridell RA, et al. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 1998; 280: 1447-51.
9. Li XC, Everett LA, Lalwani AK, et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998; 18: 215-17.
10. Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997; 6: 2173-77.
11. Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 6: 1605-09.
12. Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998; 351: 394-98.
13. Worldwide survey of the AF508 mutation. Report from the cystic fibrosis genetic analysis consortium. Am J Hum Genet 1 990; 47: 354-59.
14. Liu X, Xu L. Nonsyndromic hearing loss: an analysis of audiograms. Ann Otol Rhinol Laryngol 1994; 103:428-33.
15. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/T^D and ROM 1 loci. Science 1994; 264:1604-08.
16. Beaudet AL, Tsui L-C. A suggested nomenclature for designating mutations. Hum Mutation 1993; 2: 245-48.
17. Ressot C, Gomes D, Dautigny A, Pham-Dinh D, Bruzzone R. Connexin32 mutations associated with X-linked Charcot-MarieTooth disease show two distinct behaviors: loss of function and altered gating properties. J N euro s ci 1998; 18:4063-75.
18. Jackler RK, Luxford WM, House WF. Congenital malformation of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;3:2-14.
19. Huygen PLM, vanRijn PM, Cremers CWRJ, Theunissen EJJM. The vestibulo-ocular reflex in pupils at a Dutch school for the hearing impaired: findings relating to acquired causes. IntJ Pediatr Otorhinolaryngol 1 993; 25: 39-47.
20. Gorlin RJ. Genetic hearing loss with no associated abnormalities. In: Gorlin RJ, Toriello HV, Cohen MM, eds. Hereditary hearing loss and its syndromes, vol 28. New York: Oxford University Press, 1995: 43-61.
21. Fisher NA, Curtin HD. Radiology of congenital hearing loss. Otolaryngol Clin North Am 1994; 27: 511-31.
22. Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1 998; 62: 792-99.
23. Scott DA, Kraft ML, Carmi R, et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutât 1998; 11:387-94.
24. Carrasquillo MM, Zlotogora J, Barges L, Chakravarti A. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 1 997; 6: 21 63-72.
25. Denoyelle F, Lina-Granade G, Plauchu H, et al. Connexin26 gene linked to a dominant deafness. Nature 1998; 393: 319-20.
26. Lench N, Houseman M, Newton V, Van Camp G, Mueller R. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 1998; 351: 415.
27. Fowler KB, Stagno S, Pass RF, Britt WJ, Boll TJ, Alford CA. The outcome of congenital cytomegalovirus infection in relation to maternal antibody status. N EnglJ Med 1992; 326: 663-67.