Human Molecular Genetics, Vol 6, 2173-2177, Copyright © 1997 by Oxford University Press
F Denoyelle, D Weil, MA Maw, SA Wilcox, NJ Lench, DR Allen-Powell, AH Osborn, HH Dahl, A Middleton, MJ Houseman, C Dode, S Marlin, A Boulila-ElGaied, M Grati, H Ayadi, S BenArab, P Bitoun, G Lina-Granade, J Godet, M Mustapha, J Loiselet, E El-Zir, A Aubois, A Joannard and C Petit
Prelingual non-syndromic (isolated) deafness is the most frequent
hereditary sensory defect. In >80% of the cases, the mode of
transmission is autosomal recessive. To date, 14 loci have been identified
for the recessive forms (DFNB loci). For two of them, DFNB1 and DFNB2, the
genes responsible have been characterized; they encode connexin 26 and
myosin VIIA, respectively. In order to evaluate the extent to which the
connexin 26 gene (Cx26) contributes to prelingual deafness, we searched for
mutations in this gene in 65 affected Caucasian families originating from
various countries, mainly tunisia, France, New Zealand and the UK. Six of
these families are consanguineous, and deafness was shown to be linked to
the DFNB1 locus, 10 are small non consanguineous families in which the
segregation of the trait has been found to be compatible with the
involvement of DFNB1, and in the remaining 49 families no linkage analysis
has been performed. A total of 62 mutant alleles in 39 families were
identified. Therefore, mutations in Cx26 represent a major cause of
recessively inherited prelingual deafness since according to the present
results they would underlie approximately half of the cases. In addition,
one specific mutation, 30delG, accounts for the majority (approximately
70%) of the Cx26 mutant alleles. It is therefore one of the most frequent
disease mutations so far identified. Several lines of evidence indicate
that the high prevalence of the 30delG mutation arises from a mutation hot
spot rather than from a founder effect. Genetic counseling for prelingual
deafness has been so far considerably impaired by the difficulty in
distinguishing genetic and non genetic deafness in families presenting with
a single deaf child. Based on the results presented here, the development
of a simple molecular test could be designed which should be of
considerable help.
ARTICLES
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene
Unite de Genetique de Deficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, France.
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|
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|
|
|
|
 |
|
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|
|
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|
|
|
|
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|
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|
|
|
|
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|
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|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
 |
|
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|
|
|
|
|
|
M. Frydman, S. Vreugde, B. I. Nageris, S. Weiss, O. Vahava, and K. B. Avraham Clinical Characterization of Genetic Hearing Loss Caused by a Mutation in the POU4F3 Transcription Factor Arch Otolaryngol Head Neck Surg, May 1, 2000; 126(5): 633 - 637. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Morlé, M. Bozon, N. Alloisio, P. Latour, A. Vandenberghe, H. Plauchu, L. Collet, P. Edery, J. Godet, and G. Lina-Granade A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss J. Med. Genet., May 1, 2000; 37(5): 368 - 370. [Abstract] [Full Text]
|
|
|
|
 |
|
 W Reardon and R F Mueller Current topic: Inherited deafness in childhood---the genetic revolution unmasks the clinical challenge Arch. Dis. Child., April 1, 2000; 82(4): 319 - 321. [Full Text]
|
|
|
|
 |
|
 K. P Steel Science, medicine, and the future: New interventions in hearing impairment BMJ, March 4, 2000; 320(7235): 622 - 625. [Full Text]
|
|
|
|
|
|
S. Abe, S.-i. Usami, H. Shinkawa, P. M Kelley, and W. J Kimberling Prevalent connexin 26 gene (GJB2) mutations in Japanese J. Med. Genet., January 1, 2000; 37(1): 41 - 43. [Abstract] [Full Text]
|
|
|
|
|
|
A Murgia, E Orzan, R Polli, M Martella, C Vinanzi, E Leonardi, E Arslan, and F Zacchello Cx26 deafness: mutation analysis and clinical variability J. Med. Genet., November 1, 1999; 36(11): 829 - 832. [Abstract] [Full Text]
|
|
|
|
|
|
E. Maestrini, B. P. Korge, J. Ocana-Sierra, E. Calzolari, S. Cambiaghi, P. M. Scudder, A. Hovnanian, A. P. Monaco, and C. S. Munro A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families Hum. Mol. Genet., July 1, 1999; 8(7): 1237 - 1243. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. E. Green, D. A. Scott, J. M. McDonald, G. G. Woodworth, V. C. Sheffield, and R. J. H. Smith Carrier Rates in the Midwestern United States for GJB2 Mutations Causing Inherited Deafness JAMA, June 16, 1999; 281(23): 2211 - 2216. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. A Wilcox, A. H Osborn, D. R Allen-Powell, M. A Maw, H.-H. M Dahl, and R J M. Gardner Connexin26 deafness in several interconnected families J. Med. Genet., May 1, 1999; 36(5): 383 - 385. [Abstract] [Full Text]
|
|
|
|
|
|
R. Rabionet and X. Estivill Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene J. Med. Genet., March 1, 1999; 36(3): 260 - 261. [Abstract] [Full Text]
|
|
|
|
 |
|
 E. S. Cohn, P. M. Kelley, T. W. Fowler, M. P. Gorga, D. M. Lefkowitz, H. J. Kuehn, G. B. Schaefer, L. S. Gobar, F. J. Hahn, D. J. Harris, et al. Clinical Studies of Families With Hearing Loss Attributable to Mutations in the Connexin 26 Gene (GJB2/DFNB1) Pediatrics, March 1, 1999; 103(3): 546 - 550. [Abstract] [Full Text]
|
|
|
|
|
|
K. P. Steel Genetic Deafness: A Step Closer Pediatrics, March 1, 1999; 103(3): 674 - 674. [Full Text]
|
|
|
|
|
|
M J Parker, H Fortnum, I D Young, and A C Davis Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists J. Med. Genet., February 1, 1999; 36(2): 125 - 130. [Abstract] [Full Text]
|
|
|
|
|
|
B. J. B. Keats and C. I. Berlin Genomics and Hearing Impairment Genome Res., January 1, 1999; 9(1): 7 - 16. [Abstract] [Full Text]
|
|
|
|
 |
|
 R. J. Morell, H. J. Kim, L. J. Hood, L. Goforth, K. Friderici, R. Fisher, G. Van Camp, C. I. Berlin, C. Oddoux, H. Ostrer, et al. Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness N. Engl. J. Med., November 19, 1998; 339(21): 1500 - 1505. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. P. Steel A New Era in the Genetics of Deafness N. Engl. J. Med., November 19, 1998; 339(21): 1545 - 1547. [Full Text]
|
|
|
|
 |
|
 C. Ressot, D. Gomes, A. Dautigny, D. Pham-Dinh, and R. Bruzzone Connexin32 Mutations Associated with X-Linked Charcot-Marie-Tooth Disease Show Two Distinct Behaviors: Loss of Function and Altered Gating Properties J. Neurosci., June 1, 1998; 18(11): 4063 - 4075. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 O. Vahava, R. Morell, E. D. Lynch, S. Weiss, M. E. Kagan, N. Ahituv, J. E. Morrow, M. K. Lee, A. B. Skvorak, C. C. Morton, et al. Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans Science, March 20, 1998; 279(5358): 1950 - 1954. [Abstract] [Full Text]
|
|