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Amorini M, Romeo P, Bruno R, et al. Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily. Ann Hum Genet. 2015;79(5):341-349doi: 10.1111/ahg.12120.
Amorini, M., Romeo, P., Bruno, R., Galletti, F., Di Bella, C., Longo, P., Briuglia, S., Salpietro, C., & Rigoli, L. (2015). Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily. Annals of human genetics, 79(5), 341-349. https://doi.org/10.1111/ahg.12120
Amorini, Maria, et al. "Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily." Annals of human genetics vol. 79,5 (2015): 341-349. doi: https://doi.org/10.1111/ahg.12120
Amorini M, Romeo P, Bruno R, Galletti F, Di Bella C, Longo P, Briuglia S, Salpietro C, Rigoli L. Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily. Ann Hum Genet. 2015 Sep;79(5):341-349. doi: 10.1111/ahg.12120. Epub 2015 Jun 19. PMID: 26096904.
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Ann Hum Genet. 2015 Sep;79(5):341-349. doi: 10.1111/ahg.12120. Epub 2015 Jun 19.

Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.

Annals of human genetics

Maria Amorini, Petronilla Romeo, Rocco Bruno, Francesco Galletti, Chiara Di Bella, Patrizia Longo, Silvana Briuglia, Carmelo Salpietro, Luciana Rigoli

Affiliations

  1. Department of Paediatrics, University of Messina, Italy.
  2. Department of Experimental Medical-Surgery, Specialist and Odontostomatological Science, Otorhinolaringology and Auditory Microsurgery Unit, University of Messina, Italy.

PMID: 26096904 DOI: 10.1111/ahg.12120

Abstract

Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) and connexin 30 (GJB6) have been shown to be a major contributor to prelingual, sensorineural, nonsyndromic deafness. The aim of this study was to characterize and establish the prevalence of GJB2 and GJB6 gene alterations in 196 patients affected by sensorineural, nonsyndromic hearing loss, from Eastern Sicily. We performed sequence analysis of GJB2 and identified sequence variants in 68 out of 196 patients (34.7%); (28 homozygous for c.35delG, 22 compound heterozygous and 11 with only one variant allele). We found 12 different allelic variants, the most prevalent being c.35delG, which was found on 89 chromosomes (65.5%), followed by other alleles with different frequencies (p.E47X, c.-23+1G>A, p.L90P, p.R184W, p.M34T, c.167delT, p.R127H, p.M163V, p.V153I, p.W24X, and p.T8M). Importantly, for the first time we present the frequency and spectrum of GJB2 mutations in NSHL patients from Eastern Sicily. No alterations were found in the GJB6 gene, confirming that alterations in this gene are uncommon in our geographic area. Note that 65.3% and 23.5% of our patients, respectively were found to be negative or carriers by GJB2 molecular screening. This emphasizes the need to broaden the genetic analysis to other genes involved in hearing loss.

© 2015 John Wiley & Sons Ltd/University College London.

Keywords: Eastern Sicily population; Prevalance of connexin-26 (GJB2) and connexin-30 (GJB6) allelic variants; nonsyndromic hearing loss

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