G130v De Novo Mutation in an Iranian Pedigree With Nonsyndromic Hearing Loss Without Palmoplantar Keratoderma

G130v De Novo Mutation in an Iranian Pedigree With Nonsyndromic Hearing Loss Without Palmoplantar Keratoderma Publisher Pubmed

Babanejad M¹ ; Zarandy MM² ; Nikzat N¹ ; Bazazzadegan N¹ ; Arzhangi S¹ ; Mohseni M¹ ; Kahrizi K¹ ; Najmabadi H¹

Show Affiliations

1. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
2. Cochlear Implant Center and Department of Otorhinolaryngology, Amir Aalam Hospital, Tehran University of Medical Sciences, Tehran, Iran

Source: International Journal of Pediatric Otorhinolaryngology Published:2019

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. © 2019 Elsevier B.V.

Style	Citing Format
MLA	Babanejad M, et al.. "G130v De Novo Mutation in an Iranian Pedigree With Nonsyndromic Hearing Loss Without Palmoplantar Keratoderma." International Journal of Pediatric Otorhinolaryngology, vol. 126, no. , 2019, pp. -.
APA	Babanejad M, Zarandy MM, Nikzat N, Bazazzadegan N, Arzhangi S, Mohseni M, Kahrizi K, Najmabadi H (2019). G130v De Novo Mutation in an Iranian Pedigree With Nonsyndromic Hearing Loss Without Palmoplantar Keratoderma. International Journal of Pediatric Otorhinolaryngology, 126(), -.
Chicago	Babanejad M, Zarandy MM, Nikzat N, Bazazzadegan N, Arzhangi S, Mohseni M, Kahrizi K, Najmabadi H. "G130v De Novo Mutation in an Iranian Pedigree With Nonsyndromic Hearing Loss Without Palmoplantar Keratoderma." International Journal of Pediatric Otorhinolaryngology 126, no. (2019): -.
Harvard	Babanejad M et al. (2019) 'G130v De Novo Mutation in an Iranian Pedigree With Nonsyndromic Hearing Loss Without Palmoplantar Keratoderma', International Journal of Pediatric Otorhinolaryngology, 126(), pp. -.
Vancouver	Babanejad M, Zarandy MM, Nikzat N, Bazazzadegan N, Arzhangi S, Mohseni M, et al.. G130v De Novo Mutation in an Iranian Pedigree With Nonsyndromic Hearing Loss Without Palmoplantar Keratoderma. International Journal of Pediatric Otorhinolaryngology. 2019;126():-.
BibTex	@article{ author = {Babanejad M and Zarandy MM and Nikzat N and Bazazzadegan N and Arzhangi S and Mohseni M and Kahrizi K and Najmabadi H}, title = {G130v De Novo Mutation in an Iranian Pedigree With Nonsyndromic Hearing Loss Without Palmoplantar Keratoderma}, journal = {International Journal of Pediatric Otorhinolaryngology}, volume = {126}, number = {}, pages = {-}, year = {2019} }
RIS	TY - JOUR AU - Babanejad M AU - Zarandy MM AU - Nikzat N AU - Bazazzadegan N AU - Arzhangi S AU - Mohseni M AU - Kahrizi K AU - Najmabadi H TI - G130v De Novo Mutation in an Iranian Pedigree With Nonsyndromic Hearing Loss Without Palmoplantar Keratoderma JO - International Journal of Pediatric Otorhinolaryngology VL - 126 IS - SP - EP - PY - 2019 ER -

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