|
|
||||||||||||||
|
|
|||||||||||||||
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.
This article has been cited by other articles:
![]() |
F. Declau, A. Boudewyns, J. Van den Ende, A. Peeters, and P. van den Heyning Etiologic and Audiologic Evaluations After Universal Neonatal Hearing Screening: Analysis of 170 Referred Neonates Pediatrics, June 1, 2008; 121(6): 1119 - 1126. [Abstract] [Full Text] [PDF] |
||||
![]() |
C. C. Morton and W. E. Nance Newborn Hearing Screening -- A Silent Revolution N. Engl. J. Med., May 18, 2006; 354(20): 2151 - 2164. [Full Text] [PDF] |
||||
![]() |
S. Marlin, D. Feldmann, H. Blons, N. Loundon, I. Rouillon, S. Albert, P. Chauvin, E.-N. Garabedian, R. Couderc, S. Odent, et al. GJB2 and GJB6 Mutations: Genotypic and Phenotypic Correlations in a Large Cohort of Hearing-Impaired Patients Arch Otolaryngol Head Neck Surg, June 1, 2005; 131(6): 481 - 487. [Abstract] [Full Text] [PDF] |
||||
![]() |
K Cryns, E Orzan, A Murgia, P L M Huygen, F Moreno, I del Castillo, G Parker Chamberlin, H Azaiez, S Prasad, R A Cucci, et al. A genotype-phenotype correlation for GJB2 (connexin 26) deafness J. Med. Genet., March 1, 2004; 41(3): 147 - 154. [Abstract] [Full Text] [PDF] |
||||
![]() |
V Migliosi, S Modamio-Hoybjor, M A Moreno-Pelayo, M Rodriguez-Ballesteros, M Villamar, D Telleria, I Menendez, F Moreno, and I del Castillo Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss J. Med. Genet., July 1, 2002; 39(7): 502 - 506. [Full Text] [PDF] |
||||
![]() |
C. C. Morton Genetics, genomics and gene discovery in the auditory system Hum. Mol. Genet., May 15, 2002; 11(10): 1229 - 1240. [Abstract] [Full Text] [PDF] |
||||
![]() |
I. del Castillo, M. Villamar, M. A. Moreno-Pelayo, F. J. del Castillo, A. Alvarez, D. Telleria, I. Menendez, and F. Moreno A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment N. Engl. J. Med., January 24, 2002; 346(4): 243 - 249. [Abstract] [Full Text] [PDF] |
||||
![]() |
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] |
||||
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |