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|Title:||The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population|
|Citation:||Human Genetics, 2000; 106(1):50-57|
|Tama Sobe, Sarah Vreugde, Hashem Shahin, Mira Berlin, Noa Davis, Moien Kanaan, Yuval Yaron, Avi Orr-Urtreger, Moshe Frydman, Mordechai Shohat, Karen B. Avraham|
|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 children and adults in Israel in order to determine the percentage 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. Almost 39% of all persons tested harbored GJB2 mutations, the majority of which were 35delG and 167delT mutations. A novel mutation, involving both a deletion and insertion, 51del12insA, was identified in a family originating from Uzbekistan. Several parameters were examined to establish whether genotype-phenotype correlations exist, including age of onset, severity of hearing loss and audiological characteristics, including pure-tone audiometry, tympanometry, auditory brainstem response (ABR), and transient evoked otoacoustic emissions (TEOAE). All GJB2 mutations were associated with prelingual hearing loss, though severity ranged from moderate to profound, with variability even among hearing impaired siblings. We have not found a significant difference in hearing levels between individuals with 35delG and 167delT mutations. Our results suggest that, in Israel, clinicians should first screen for the common 167delT and 35delG mutations by simple and inexpensive restriction enzyme analysis, although if these are not found, sequencing should be done to rule out additional mutations due to the ethnic diversity in this region.|
|Keywords:||Hearing Loss, Sensorineural|
|Description:||Published online: 17 December 1999|
|Rights:||© Springer-Verlag 1999|
|Appears in Collections:||Medicine publications|
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