Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe: The Role of the DFNB1 Locus?

Cristina Caroça, Tiago Morim De Matos, Diogo Ribeiro, Vera Lourenço, Tânia Martins, Paula Campelo, Graça Fialho, Susana Nunes Silva, João Paço, Helena Caria

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Hearing loss (HL) is a common condition with both genetic and environmental causes, and it greatly impacts global health. The prevalence of HL is reportedly higher in developing countries such as the Sub-Saharan African island of São Tomé and Príncipe, where the deaf community is estimated to be less than 1% of the population. We investigated the role of the DFNB1 locus (GJB2 and GJB6 genes) in the etiology of nonsyndromic sensorineural hearing loss (NSSHL) in São Tomé and Príncipe. A sample of 316 individuals, comprising 136 NSSHL patients (92 bilateral, 44 unilateral) and 180 controls, underwent a clinical and audiological examination. Sequencing of the GJB2 coding region and testing for the (GJB6-D13S1830) and del(GJB6-D13S1854) GJB6 deletions were performed. A total of 311 out of 316 individuals were successfully analyzed regarding the GJB2 and GJB6 genetic variations, respectively. The frequency of the GJB2 coding mutations in patients and controls was low. Some of those coding mutations are the most commonly found in Eurasian and Mediterranean populations and have also been identified in Portugal. None of the GJB6 deletions was present. The presence of certain coding variants in São Tomé and Príncipe suggests a non-Sub-Saharan genetic influx and supports the previously reported genetic influx from European (mainly Portuguese) ancestors. In summary, DFNB1 locus does not appear to be a major contributor to NSSHL in São Tomé and Príncipe. However, the presence of both pathogenic and likely pathogenic mutations in GJB2 suggests that GJB2-related NSSHL might still occur in this population, warranting further research on GJB2 testing in NSSHL cases.

Original languageEnglish
Pages (from-to)449-455
Number of pages7
JournalOmics-A Journal Of Integrative Biology
Volume20
Issue number8
DOIs
Publication statusPublished - Aug 2016

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Audition
Islands
Population
Hearing Loss
Mutation
Portugal
Developing Countries
Testing
Nonsyndromic sensorineural hearing loss
Developing countries
Genes
Health
Research

Cite this

Caroça, Cristina ; De Matos, Tiago Morim ; Ribeiro, Diogo ; Lourenço, Vera ; Martins, Tânia ; Campelo, Paula ; Fialho, Graça ; Nunes Silva, Susana ; Paço, João ; Caria, Helena. / Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe : The Role of the DFNB1 Locus?. In: Omics-A Journal Of Integrative Biology. 2016 ; Vol. 20, No. 8. pp. 449-455.
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abstract = "Hearing loss (HL) is a common condition with both genetic and environmental causes, and it greatly impacts global health. The prevalence of HL is reportedly higher in developing countries such as the Sub-Saharan African island of S{\~a}o Tom{\'e} and Pr{\'i}ncipe, where the deaf community is estimated to be less than 1{\%} of the population. We investigated the role of the DFNB1 locus (GJB2 and GJB6 genes) in the etiology of nonsyndromic sensorineural hearing loss (NSSHL) in S{\~a}o Tom{\'e} and Pr{\'i}ncipe. A sample of 316 individuals, comprising 136 NSSHL patients (92 bilateral, 44 unilateral) and 180 controls, underwent a clinical and audiological examination. Sequencing of the GJB2 coding region and testing for the (GJB6-D13S1830) and del(GJB6-D13S1854) GJB6 deletions were performed. A total of 311 out of 316 individuals were successfully analyzed regarding the GJB2 and GJB6 genetic variations, respectively. The frequency of the GJB2 coding mutations in patients and controls was low. Some of those coding mutations are the most commonly found in Eurasian and Mediterranean populations and have also been identified in Portugal. None of the GJB6 deletions was present. The presence of certain coding variants in S{\~a}o Tom{\'e} and Pr{\'i}ncipe suggests a non-Sub-Saharan genetic influx and supports the previously reported genetic influx from European (mainly Portuguese) ancestors. In summary, DFNB1 locus does not appear to be a major contributor to NSSHL in S{\~a}o Tom{\'e} and Pr{\'i}ncipe. However, the presence of both pathogenic and likely pathogenic mutations in GJB2 suggests that GJB2-related NSSHL might still occur in this population, warranting further research on GJB2 testing in NSSHL cases.",
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Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe : The Role of the DFNB1 Locus? / Caroça, Cristina ; De Matos, Tiago Morim; Ribeiro, Diogo; Lourenço, Vera; Martins, Tânia; Campelo, Paula; Fialho, Graça; Nunes Silva, Susana; Paço, João ; Caria, Helena.

In: Omics-A Journal Of Integrative Biology, Vol. 20, No. 8, 08.2016, p. 449-455.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe

T2 - The Role of the DFNB1 Locus?

AU - Caroça, Cristina

AU - De Matos, Tiago Morim

AU - Ribeiro, Diogo

AU - Lourenço, Vera

AU - Martins, Tânia

AU - Campelo, Paula

AU - Fialho, Graça

AU - Nunes Silva, Susana

AU - Paço, João

AU - Caria, Helena

PY - 2016/8

Y1 - 2016/8

N2 - Hearing loss (HL) is a common condition with both genetic and environmental causes, and it greatly impacts global health. The prevalence of HL is reportedly higher in developing countries such as the Sub-Saharan African island of São Tomé and Príncipe, where the deaf community is estimated to be less than 1% of the population. We investigated the role of the DFNB1 locus (GJB2 and GJB6 genes) in the etiology of nonsyndromic sensorineural hearing loss (NSSHL) in São Tomé and Príncipe. A sample of 316 individuals, comprising 136 NSSHL patients (92 bilateral, 44 unilateral) and 180 controls, underwent a clinical and audiological examination. Sequencing of the GJB2 coding region and testing for the (GJB6-D13S1830) and del(GJB6-D13S1854) GJB6 deletions were performed. A total of 311 out of 316 individuals were successfully analyzed regarding the GJB2 and GJB6 genetic variations, respectively. The frequency of the GJB2 coding mutations in patients and controls was low. Some of those coding mutations are the most commonly found in Eurasian and Mediterranean populations and have also been identified in Portugal. None of the GJB6 deletions was present. The presence of certain coding variants in São Tomé and Príncipe suggests a non-Sub-Saharan genetic influx and supports the previously reported genetic influx from European (mainly Portuguese) ancestors. In summary, DFNB1 locus does not appear to be a major contributor to NSSHL in São Tomé and Príncipe. However, the presence of both pathogenic and likely pathogenic mutations in GJB2 suggests that GJB2-related NSSHL might still occur in this population, warranting further research on GJB2 testing in NSSHL cases.

AB - Hearing loss (HL) is a common condition with both genetic and environmental causes, and it greatly impacts global health. The prevalence of HL is reportedly higher in developing countries such as the Sub-Saharan African island of São Tomé and Príncipe, where the deaf community is estimated to be less than 1% of the population. We investigated the role of the DFNB1 locus (GJB2 and GJB6 genes) in the etiology of nonsyndromic sensorineural hearing loss (NSSHL) in São Tomé and Príncipe. A sample of 316 individuals, comprising 136 NSSHL patients (92 bilateral, 44 unilateral) and 180 controls, underwent a clinical and audiological examination. Sequencing of the GJB2 coding region and testing for the (GJB6-D13S1830) and del(GJB6-D13S1854) GJB6 deletions were performed. A total of 311 out of 316 individuals were successfully analyzed regarding the GJB2 and GJB6 genetic variations, respectively. The frequency of the GJB2 coding mutations in patients and controls was low. Some of those coding mutations are the most commonly found in Eurasian and Mediterranean populations and have also been identified in Portugal. None of the GJB6 deletions was present. The presence of certain coding variants in São Tomé and Príncipe suggests a non-Sub-Saharan genetic influx and supports the previously reported genetic influx from European (mainly Portuguese) ancestors. In summary, DFNB1 locus does not appear to be a major contributor to NSSHL in São Tomé and Príncipe. However, the presence of both pathogenic and likely pathogenic mutations in GJB2 suggests that GJB2-related NSSHL might still occur in this population, warranting further research on GJB2 testing in NSSHL cases.

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U2 - 10.1089/omi.2016.0067

DO - 10.1089/omi.2016.0067

M3 - Article

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EP - 455

JO - Omics-A Journal Of Integrative Biology

JF - Omics-A Journal Of Integrative Biology

SN - 1536-2310

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