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Abstract Connexin 26 (GJB2) mutations lead to hearing loss in a significant proportion of all populations studied
 

Summary: Abstract Connexin 26 (GJB2) mutations lead to hearing
loss in a significant proportion of all populations studied
so far, despite the fact that at least 50 other genes are also
associated with hearing loss. The entire coding region of
connexin 26 was sequenced in 75 hearing impaired chil-
dren and adults in Israel in order to determine the percent-
age of hearing loss attributed to connexin 26 and the types
of mutations in this population. Age of onset in the
screened population was both prelingual and postlingual,
with hearing loss ranging from moderate to profound. Al-
most 39% of all persons tested harbored GJB2 mutations,
the majority of which were 35delG and 167delT muta-
tions. A novel mutation, involving both a deletion and in-
sertion, 51del12insA, was identified in a family originat-
ing from Uzbekistan. Several parameters were examined
to establish whether genotype-phenotype correlations ex-
ist, including age of onset, severity of hearing loss and au-
diological characteristics, including pure-tone audiome-
try, tympanometry, auditory brainstem response (ABR),
and transient evoked otoacoustic emissions (TEOAE). All

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine