title: A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.
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.
authors.affiliation: Servizio di Genetica Medica, IRCCS-Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Maria Stella
authors.initials: MS
authors.lastname: Alemanno
authors.forename: Elona
authors.initials: E
authors.lastname: Cama
authors.forename: Rosamaria
authors.initials: R
authors.lastname: Santarelli
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
authors.forename: Luisa
authors.initials: L
authors.lastname: Toffolatti
authors.forename: Teresa
authors.initials: T
authors.lastname: Palladino
authors.forename: Salvatore
authors.initials: S
authors.lastname: Melchionda
authors.forename: Edoardo
authors.initials: E
authors.lastname: Arslan
mesh_terms: D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D014416:Tunisia
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26