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 journalArticlepeer-review


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
Issue number5
Publication statusPublished - May 2007


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

ASJC Scopus subject areas

  • Otorhinolaryngology


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