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Abstract(s)
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.
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Citation
Matos, T.D., Simões-Teixeira, H., Caria, H., Gonçalves, A.C., Chora, J., Correia, M.C. …Fialho, G.(2013). Spectrum and frequency of gjb2 mutations in a cohort of 264 portuguese nonsyndromic sensorineural hearing loss patients. International Journal of Audiology, 52 (7), p.p. 466-71. doi: 10.3109/14992027.2013.783719