Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients

Tiago Daniel Matos, Helena Simões-Teixeira, Helena Caria, Ana Cláudia Gonçalves, Joana Chora, Maria Do Céu Correia, Carla Moura, Helena Rosa, Luísa Monteiro, Assunção O'Neill, Óscar Dias, Mário Andrea, Graça Fialho

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)466-471
Number of pages6
JournalInternational Journal Of Audiology
Volume52
Issue number7
DOIs
Publication statusPublished - 1 Jul 2013

Fingerprint

Mutation Rate
Portugal
rehabilitation
counseling
cause
Alleles
Mutation
Genes
RNA Splice Sites
Genetic Counseling
Genetic Promoter Regions
Nonsyndromic sensorineural hearing loss
Hearing Impairment
Cohort
Exons
Rehabilitation
Allele
Gene

Keywords

  • Connexin 26
  • Deafness
  • DFNB1
  • Genetic
  • GJB2
  • GJB6
  • Hearing loss
  • Hereditary
  • Mutation

Cite this

Matos, Tiago Daniel ; Simões-Teixeira, Helena ; Caria, Helena ; Gonçalves, Ana Cláudia ; Chora, Joana ; Correia, Maria Do Céu ; Moura, Carla ; Rosa, Helena ; Monteiro, Luísa ; O'Neill, Assunção ; Dias, Óscar ; Andrea, Mário ; Fialho, Graça. / Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. In: International Journal Of Audiology. 2013 ; Vol. 52, No. 7. pp. 466-471.
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abstract = "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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Matos, TD, Simões-Teixeira, H, Caria, H, Gonçalves, AC, Chora, J, Correia, MDC, Moura, C, Rosa, H, Monteiro, L, O'Neill, A, Dias, Ó, Andrea, M & Fialho, G 2013, 'Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients', International Journal Of Audiology, vol. 52, no. 7, pp. 466-471. https://doi.org/10.3109/14992027.2013.783719

Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. / Matos, Tiago Daniel; Simões-Teixeira, Helena; Caria, Helena; Gonçalves, Ana Cláudia; Chora, Joana; Correia, Maria Do Céu; Moura, Carla; Rosa, Helena; Monteiro, Luísa; O'Neill, Assunção; Dias, Óscar; Andrea, Mário; Fialho, Graça.

In: International Journal Of Audiology, Vol. 52, No. 7, 01.07.2013, p. 466-471.

Research output: Contribution to journalArticle

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T1 - Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients

AU - Matos, Tiago Daniel

AU - Simões-Teixeira, Helena

AU - Caria, Helena

AU - Gonçalves, Ana Cláudia

AU - Chora, Joana

AU - Correia, Maria Do Céu

AU - Moura, Carla

AU - Rosa, Helena

AU - Monteiro, Luísa

AU - O'Neill, Assunção

AU - Dias, Óscar

AU - Andrea, Mário

AU - Fialho, Graça

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N2 - 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.

AB - 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.

KW - Connexin 26

KW - Deafness

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KW - GJB6

KW - Hearing loss

KW - Hereditary

KW - Mutation

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