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Paper Information

Journal:   ACTA MEDICA IRANICA   2014 , Volume 52 , Number 8; Page(s) 0 To 0.
 
Paper: 

A NOVEL COMPOUND HETEROZYGOUS MUTATION (35DELG, 363DELC) IN THE CONNEXIN 26 GENE CAUSES NON-SYNDROMIC AUTOSOMAL RECESSIVE HEARING LOSS (CASE REPORT)

 
 
Author(s):  ONSORI HABIB*, RAHMATI MOHAMMAD, FAZLI DAVOOD
 
* DEPARTMENT OF CELL AND MOLECULAR BIOLOGY, MARAND BRANCH, ISLAMIC AZAD UNIVERSITY, MARAND, IRAN
 
Abstract: 

Mutations in the Connexin 26 (Cx26) gene are a common cause of hereditary hearing loss in different populations. In the present study, an Iranian patient with bilateral hearing loss underwent molecular analysis for the causative mutation. DNA studies were performed for the Cx26 gene by PCR and sequencing methods. We describe a novel compound heterozygous mutation (35delG, 363delC) in the Cx26 gene that is strongly associated with congenital non-syndromic hearing loss (NSHL).

 
Keyword(s): CONNEXIN 26, HEARING LOSS, NOVEL MUTATION, CASE REPORT
 
References: 
 
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