Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

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 ha...

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Published inHuman molecular genetics Vol. 6; no. 12; pp. 2173 - 2177
Main Authors Denoyelle, Françoise, Weil, Dominique, Maw, Marion A., Wilcox, Stephen A., Lench, Nicholas J., Allen-Powell, Denise R., Osborn, Amelia H., Dahl, Hans-Henrik M., Middleton, Anna, Houseman, Mark J., Dodé, Catherine, Marlin, Sandrine, Boulila-ElGaïed, Amel, Grati, Mohammed, Ayadi, Hammadi, BenArab, Saïda, Bitoun, Pierre, Lina-Granade, Geneviève, Godet, Jacqueline, Mustapha, Mirna, Loiselet, Jacques, El-Zir, Élie, Aubois, Anne, Joannard, Alain, Levilliers, Jacqueline, Garabédian, Éréa-Noël, Mueller, Robert F., McKinlay Gardner, R. J., Petit, Christine
Format Journal Article
LanguageEnglish
Published Oxford Oxford University Press 01.11.1997
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Abstract 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 (∼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 counselling 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.
AbstractList 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.
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 ( similar to 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 counselling 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.
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 (∼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 counselling 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.
Author Allen-Powell, Denise R.
Levilliers, Jacqueline
Petit, Christine
BenArab, Saïda
Houseman, Mark J.
Loiselet, Jacques
Grati, Mohammed
Maw, Marion A.
Dahl, Hans-Henrik M.
Wilcox, Stephen A.
Weil, Dominique
Denoyelle, Françoise
Godet, Jacqueline
Joannard, Alain
Garabédian, Éréa-Noël
Boulila-ElGaïed, Amel
McKinlay Gardner, R. J.
Lench, Nicholas J.
Marlin, Sandrine
Lina-Granade, Geneviève
Osborn, Amelia H.
Dodé, Catherine
Mueller, Robert F.
Bitoun, Pierre
Aubois, Anne
Ayadi, Hammadi
Middleton, Anna
El-Zir, Élie
Mustapha, Mirna
Author_xml – sequence: 1
  givenname: Françoise
  surname: Denoyelle
  fullname: Denoyelle, Françoise
  organization: Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, 25 rue du Dr Roux, Institut Pasteur, 75724 Paris cedex 15, France
– sequence: 2
  givenname: Dominique
  surname: Weil
  fullname: Weil, Dominique
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– sequence: 3
  givenname: Marion A.
  surname: Maw
  fullname: Maw, Marion A.
  organization: Department of Biochemistry, University of Otago, Dunedin, New Zealand
– sequence: 4
  givenname: Stephen A.
  surname: Wilcox
  fullname: Wilcox, Stephen A.
  organization: Murdoch Institute, Royal Children's Hospital, Melbourne, Australia
– sequence: 5
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  fullname: Lench, Nicholas J.
  organization: Molecular Medicine Unit, St James's University Hospital, Leeds, LS9 7TF, UK
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  givenname: Denise R.
  surname: Allen-Powell
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  organization: Department of Biochemistry, University of Otago, Dunedin, New Zealand
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  givenname: Amelia H.
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  fullname: Osborn, Amelia H.
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  fullname: Dahl, Hans-Henrik M.
  organization: Murdoch Institute, Royal Children's Hospital, Melbourne, Australia
– sequence: 9
  givenname: Anna
  surname: Middleton
  fullname: Middleton, Anna
  organization: Molecular Medicine Unit, St James's University Hospital, Leeds, LS9 7TF, UK
– sequence: 10
  givenname: Mark J.
  surname: Houseman
  fullname: Houseman, Mark J.
  organization: Molecular Medicine Unit, St James's University Hospital, Leeds, LS9 7TF, UK
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  givenname: Catherine
  surname: Dodé
  fullname: Dodé, Catherine
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– sequence: 12
  givenname: Sandrine
  surname: Marlin
  fullname: Marlin, Sandrine
  organization: Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, 25 rue du Dr Roux, Institut Pasteur, 75724 Paris cedex 15, France
– sequence: 13
  givenname: Amel
  surname: Boulila-ElGaïed
  fullname: Boulila-ElGaïed, Amel
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– sequence: 14
  givenname: Mohammed
  surname: Grati
  fullname: Grati, Mohammed
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– sequence: 15
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  fullname: Ayadi, Hammadi
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– sequence: 16
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  surname: BenArab
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  givenname: Pierre
  surname: Bitoun
  fullname: Bitoun, Pierre
  organization: Service de Pédiatrie, CHU Jean Verdier, 93143 Bondy cedex, France
– sequence: 18
  givenname: Geneviève
  surname: Lina-Granade
  fullname: Lina-Granade, Geneviève
  organization: Service ORL, Hôpital Edouard Herriot, 69437 Lyon cedex 03, France
– sequence: 19
  givenname: Jacqueline
  surname: Godet
  fullname: Godet, Jacqueline
  organization: Centre de Génétique Moléculaire et Cellulaire, CNRS UMR 5534, Université Claude Bernard, 69622 Villeurbanne cedex, France
– sequence: 20
  givenname: Mirna
  surname: Mustapha
  fullname: Mustapha, Mirna
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  givenname: Jacques
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10.1159/000484738
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Issue 12
Keywords Genetic mapping
Human
Linkage
Family study
Auditory disorder
Chromosome D13
Gap junction
Hearing loss
Connexin
Gene
ENT disease
Genetics
Inbred
Mutation
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PublicationTitle Human molecular genetics
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PublicationYear 1997
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Matsuno (14_9704743) 1992; 88
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Snippet Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of the cases, the mode of transmission is autosomal...
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SubjectTerms Australia - epidemiology
Biological and medical sciences
Connexin 26
Connexins - genetics
Consanguinity
Deafness - epidemiology
Deafness - genetics
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
France - epidemiology
Genetic Linkage
Humans
Lebanon - epidemiology
Medical sciences
New Zealand - epidemiology
Non tumoral diseases
Otorhinolaryngology. Stomatology
Prevalence
Sequence Deletion
Tunisia - epidemiology
United Kingdom - epidemiology
Title Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene
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https://www.ncbi.nlm.nih.gov/pubmed/9336442
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https://search.proquest.com/docview/79471337
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