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Nonsyndromic sensorineural hearing impairment is inherited in a predominantly autosomal recessive manner in up to 70% of cases. The gene more often involved is GJB2, encoding the gap junction protein Connexin 26. We report here a novel missense mutation in the GJB2 gene found in a Tunisian family. A homozygous change C/G at nucleotide 263 was detected in the 4-year-old girl of this family, affected by congenital moderate hearing loss. This transversion leads to the replacement of a highly conserved alanine with glycine at codon 88 (A88G). The consanguineous parents of the child are healthy carriers of the mutation.

Citation

Maria Stella Alemanno, Elona Cama, Rosamaria Santarelli, Massimo Carella, Leopoldo Zelante, Luisa Toffolatti, Teresa Palladino, Salvatore Melchionda, Edoardo Arslan. A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family. International journal of pediatric otorhinolaryngology. 2009 Jan;73(1):127-31

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PMID: 18990456

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