A new de novo missense mutation in Connexin 26 in a sporadic case of nonsyndromic deafness

Paola Primignani, Luca Trotta, Pierangela Castorina, Faustina Lalatta, Domenico Cuda, Alessandra Murri, Umberto Ambrosetti, Antonio Cesarani, Cristina Curcio, Domenico Coviello, Maurizio Travi

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

OBJECTIVES: Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic recessive deafness or dominant hearing loss (HL) with or without keratoderma. The objective was to perform a molecular evaluation to establish the inherited pattern of deafness in the sporadic cases afferent to our center. METHODS: The subject was a 2-year-old Italian girl with nonsyndromic early onset HL. We performed DNA sequencing of the GJB2 gene and deletion analysis of the GJB6 gene in all family members. RESULTS: Direct sequencing of the gene showed a heterozygous C→G transition at nucleotide 172 resulting in a proline to alanine amino acid substitution at codon 58 (P58A). The analyses indicate that the P58A mutation appeared de novo in the proband with a possible dominant effect. CONCLUSIONS: This mutation occurs in the first extracellular domain (EC1), which seems to be very important for connexon-connexon interaction and for the control of voltage gating of the channel. The de novo occurrence of an EC1 mutation in a sporadic case of deafness is consistent with the assumption that P58A can cause dominant HL.

Original languageEnglish
Pages (from-to)821-824
Number of pages4
JournalLaryngoscope
Volume117
Issue number5
DOIs
Publication statusPublished - May 2007

Fingerprint

Missense Mutation
Hearing Loss
Mutation
Deafness
Genes
Gene Deletion
Amino Acid Substitution
DNA Sequence Analysis
Proline
Codon
Alanine
Nucleotides
Connexin 26
Nonsyndromic Deafness

Keywords

  • Connexin 26
  • De novo mutation
  • Dominant deafness
  • P58A

ASJC Scopus subject areas

  • Otorhinolaryngology

Cite this

Primignani, P., Trotta, L., Castorina, P., Lalatta, F., Cuda, D., Murri, A., ... Travi, M. (2007). A new de novo missense mutation in Connexin 26 in a sporadic case of nonsyndromic deafness. Laryngoscope, 117(5), 821-824. https://doi.org/10.1097/MLG.0b013e31803330d9

A new de novo missense mutation in Connexin 26 in a sporadic case of nonsyndromic deafness. / Primignani, Paola; Trotta, Luca; Castorina, Pierangela; Lalatta, Faustina; Cuda, Domenico; Murri, Alessandra; Ambrosetti, Umberto; Cesarani, Antonio; Curcio, Cristina; Coviello, Domenico; Travi, Maurizio.

In: Laryngoscope, Vol. 117, No. 5, 05.2007, p. 821-824.

Research output: Contribution to journalArticle

Primignani, P, Trotta, L, Castorina, P, Lalatta, F, Cuda, D, Murri, A, Ambrosetti, U, Cesarani, A, Curcio, C, Coviello, D & Travi, M 2007, 'A new de novo missense mutation in Connexin 26 in a sporadic case of nonsyndromic deafness', Laryngoscope, vol. 117, no. 5, pp. 821-824. https://doi.org/10.1097/MLG.0b013e31803330d9
Primignani, Paola ; Trotta, Luca ; Castorina, Pierangela ; Lalatta, Faustina ; Cuda, Domenico ; Murri, Alessandra ; Ambrosetti, Umberto ; Cesarani, Antonio ; Curcio, Cristina ; Coviello, Domenico ; Travi, Maurizio. / A new de novo missense mutation in Connexin 26 in a sporadic case of nonsyndromic deafness. In: Laryngoscope. 2007 ; Vol. 117, No. 5. pp. 821-824.
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