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a Department of
Paediatrics, University of Padua, Via Giustiniani 3, 35128 Padua, Italy, b Service
of Audiology and Phonology, University of Padua, Italy
Correspondence to: Dr Murgia.
Revised version received 21 May 1999;
Accepted for publication 16
June 1999
Mutations in the gap junction protein connexin 26 (Cx26) gene
(GJB2) seem to account for many cases of
congenital sensorineural hearing impairment, the reported prevalence
being 34-50% in autosomal recessive cases and 10-37% in sporadic
cases. The hearing impairment in these patients has been described as
severe or profound. We have studied 53 unrelated subjects with
congenital non-syndromic sensorineural hearing impairment in order to
evaluate the prevalence and type of Cx26
mutations and establish better genotype-phenotype correlation.
Mutations in the Cx26 gene were found in
53% of the subjects tested, 35.3% of the autosomal recessive and 60%
of the sporadic cases in our series. Three new mutations were
identified. The hearing deficit varied from mild to profound even in
35delG homozygotes within the same family. No evidence of progression of the impairment was found.
Alterations of the Cx26 gene account for a
large proportion of cases of congenital non-syndromic sensorineural
deafness, so it seems appropriate to extend the molecular analysis even
to subjects with mild or moderate prelingual hearing impairment of unknown cause.
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L Van Laer, P Coucke, R F Mueller, G Caethoven, K Flothmann, S D Prasad, G P Chamberlin, M Houseman, G R Taylor, C M Van de Heyning, et al. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment J. Med. Genet., August 1, 2001; 38(8): 515 - 518. [Abstract] [Full Text] [PDF]
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