A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.
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.
Alemanno
Maria Stella
MS
Servizio di Genetica Medica, IRCCS-Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Cama
Elona
E
Santarelli
Rosamaria
R
Carella
Massimo
M
Zelante
Leopoldo
L
Toffolatti
Luisa
L
Palladino
Teresa
T
Melchionda
Salvatore
S
Arslan
Edoardo
E
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
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26