TY - JOUR
T1 - A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family
AU - Alemanno, Maria Stella
AU - Cama, Elona
AU - Santarelli, Rosamaria
AU - Carella, Massimo
AU - Zelante, Leopoldo
AU - Toffolatti, Luisa
AU - Palladino, Teresa
AU - Melchionda, Salvatore
AU - Arslan, Edoardo
PY - 2009/1
Y1 - 2009/1
N2 - 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.
AB - 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.
KW - Autosomal recessive hearing loss
KW - Connexin 26
KW - Consanguinity
KW - GJB2
KW - Novel mutation
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U2 - 10.1016/j.ijporl.2008.09.019
DO - 10.1016/j.ijporl.2008.09.019
M3 - Article
C2 - 18990456
AN - SCOPUS:57149105887
VL - 73
SP - 127
EP - 131
JO - International Journal of Pediatric Otorhinolaryngology
JF - International Journal of Pediatric Otorhinolaryngology
SN - 0165-5876
IS - 1
ER -