Autosomal recessive non-syndromic hearing loss is
the most common form of inherited childhood deafness.
Identification of the responsible gene in this type
of hearing loss presents difficulties because of marked
genetic heterogenicity and limited clinical presentation.
A two-year-old girl was referred to our clinic because
of congenital hearing loss. Family history showed that
her brother and six relatives of her parents were also
affected by unilateral or bilateral hearing loss. There
was no consanguinity between the parents, though
they were from close villages. Audiometric studies
revealed severe bilateral sensorineural hearing loss.
Molecular analysis of the index patient documented
that autosomal recessive non-syndromic hearing loss
resulted from the homozygous 35delG mutation in the
connexin 26 gene.
FREE FULL TEXTAnahtar Kelimeler: Connexin/genetik; sağırlık/genetik; DNAmutasyon analizi; genetik tarama; işitme kaybı, sensorinöral/etyoloji; mutasyon; pedigri.