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Titre : | Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients (2013) |
Auteurs : | Tiago Daniel Matos ; Helena Simões-Teixeira ; Helena Caria |
Type de document : | Article |
Dans : | International Journal of Audiology IJA (Vol.52, n°7, July 2013) |
Langues: | Anglais |
Descripteurs : |
HE Vinci DeaFNess Autosomal Dominant 9 (DFNA9) ; Surdité neurosensorielle (SNHL) |
Résumé : | Objective: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 264 Portuguese NSSHL patients. Results: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. Conclusions: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families. |
Disponible en ligne : | Oui |
En ligne : | https://login.ezproxy.vinci.be/login?url=https://www.tandfonline.com/doi/full/10.3109/14992027.2013.783719 |
Exemplaires (1)
Cote | Support | Localisation | Section | Disponibilité |
---|---|---|---|---|
International journal of audiology IJA. Vol.52, n°7 (July 2013) | Périodique papier | Ixelles | Rez | Consultation sur place uniquement Exclu du prêt |