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  • Title: G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma.
    Author: Babanejad M, Zarandy MM, Nikzat N, Bazazzadegan N, Arzhangi S, Mohseni M, Kahrizi K, Najmabadi H.
    Journal: Int J Pediatr Otorhinolaryngol; 2019 Nov; 126():109607. PubMed ID: 31419744.
    Abstract:
    Mutations in the GJB2 gene encoding connexin 26 (Cx26) cause autosomal recessive and rarely dominant nonsyndromic sensorineural hearing loss as well as asyndromic hearing impairment with skin problems. A dominant GJB2 mutation, c.389G > T (p.G130V), has been reported previously in association with hearing impairment and palmoplantar keratoderm. Here we report the first de novo G130V mutation of GJB2 gene in a sporadic case of hearing loss in a consanguineous Iranian family which is not associated with skin disorder.
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