Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
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
Authors

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.
Related Docs
View other Related Docs
1. Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran, Iranian Journal of Public Health (2020)
2. Gjb2 Mutations in Deaf Population of Ilam (Western Iran): A Different Pattern of Mutation Distribution, European Archives of Oto-Rhino-Laryngology (2016)
3. Mutation in Second Exon of Myo15a Gene Cause of Nonsyndromic Hearing Loss and Its Association in the Arab Population in Iran, Genetika (2016)
Experts (# of related papers)
View all Related Experts
Saeid Amanpour (2)
Ardavan Tajdini (2)
Other Related Docs
4. Specific Distribution of Gjb2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population, Journal of Sciences# Islamic Republic of Iran (2017)
5. Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran, Journal of Audiology and Otology (2019)
6. A Novel Tecta Mutation Causes Arnshl, International Journal of Pediatric Otorhinolaryngology (2017)
7. Mutation Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Central Iran, International Journal of Pediatric Otorhinolaryngology (2015)
8. Identification of Novel Variants in Iranian Consanguineous Pedigrees With Nonsyndromic Hearing Loss by Next-Generation Sequencing, Journal of Clinical Laboratory Analysis (2020)
9. Gjb2 C.−23+1G>A Mutation Is Second Most Common Mutation Among Iranian Individuals With Autosomal Recessive Hearing Loss, European Archives of Oto-Rhino-Laryngology (2015)
10. A Novel Pathogenic Variant in the Lrtomt Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family, BMC Medical Genetics (2020)
11. A Novel Variant of Slc26a4 and First Report of the C.716T>A Variant in Iranian Pedigrees With Non-Syndromic Sensorineural Hearing Loss, American Journal of Otolaryngology - Head and Neck Medicine and Surgery (2018)
12. The First Successful Application of Preimplantation Genetic Diagnosis for Hearing Loss in Iran, Cellular and Molecular Biology (2018)
13. A Novel Pathogenic Variant in the Cabp2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family, Audiology and Neurotology (2019)
14. A Novel Autosomal Recessive Gjb2-Associated Disorder: Ichthyosis Follicularis, Bilateral Severe Sensorineural Hearing Loss, and Punctate Palmoplantar Keratoderma, Human Mutation (2019)
15. Identification of a Novel Heterozygous Mutation in the Mitf Gene in an Iranian Family With Waardenburg Syndrome Type Ii Using Next-Generation Sequencing, Journal of Clinical Laboratory Analysis (2021)
16. The First Successful Application of Preimplantation Genetic Diagnosis for Hearing Loss in Iran, Cellular and molecular biology (Noisy-le-Grand# France) (2018)
17. Screening of Myo7a Mutations in Iranian Patients With Autosomal Recessive Hearing Loss From West of Iran, Iranian Journal of Public Health (2017)
18. A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a Dfnb12 Nonsyndromic Phenotype of Cdh23, Audiology and Neurotology (2020)
19. Ichthyosis Follicularis Syndromes in Patients With Mutations in Gjb2, Clinical and Experimental Dermatology (2022)
20. Mutation Analysis of Gjb2 and Gjb6 Genes and Screening of Nine Common Dfnb Loci in Iranian Pedigrees With Autosomal Recessive Nonsyndromic Hearing Loss, Indian Journal of Otology (2019)