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  • Title: A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.
    Author: Alemanno MS, Cama E, Santarelli R, Carella M, Zelante L, Toffolatti L, Palladino T, Melchionda S, Arslan E.
    Journal: Int J Pediatr Otorhinolaryngol; 2009 Jan; 73(1):127-31. PubMed ID: 18990456.
    Abstract:
    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.
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