Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)

Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)

Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. The first locus for nonsyndromic autosomal recessive HL is on chromosome 13q11-22. The two genes, GJB2 and GJB6, are closely located on chromosome and are known to be co-expressed in the embryonic cochl...

Full description

Bibliographic Details
Main Author:	Habib Onsori
Format:	Article
Language:	English
Published:	Instituto de Tecnologia do Paraná (Tecpar) 2016-04-01
Series:	Brazilian Archives of Biology and Technology
Subjects:	Hearing loss GJB6 GJB2 Deletion Mutation Iran
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132016000100311&lng=en&tlng=en

Similar Items

Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population
by: Somayeh Ebrahimkhani, et al.
Published: (2021-03-01)

Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran
by: Hossein Naddafnia, et al.
Published: (2019-07-01)

Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families
by: Arti Pandya, et al.
Published: (2020-04-01)

Evaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
by: Seyed Hamid Reza Abtahi, et al.
Published: (2019-02-01)

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana
by: Samuel M. Adadey, et al.
Published: (2019-09-01)

Erratum: GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana
by: Frontiers Production Office
Published: (2019-11-01)

GJB2 and GJB6 genes mutations in children with non-syndromic hearing loss
by: Lazăr Călin, et al.
Published: (2017-03-01)

Erratum: Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)
Published: (2016-06-01)

GJB2 and GJB6 gene transcripts in the human cochlea: A study using RNAscope, confocal, and super-resolution structured illumination microscopy
by: Wei Liu, et al.
Published: (2022-09-01)

Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles
by: Leonardo Franz, et al.
Published: (2024-02-01)

<i>GJB</i>2 and <i>GJB</i>6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort
by: Paula Buonfiglio, et al.
Published: (2020-10-01)

Relative Frequency of 35delG Mutation in GJB2 Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population
by: N Bazazzadegan, et al.
Published: (2004-07-01)

Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).
by: Juan Rodriguez-Paris, et al.
Published: (2011-01-01)

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study
by: María Domínguez-Ruiz, et al.
Published: (2024-04-01)

Screening of Autosomal Recessive Non-Syndromic Hearing Loss gor GJB2 Mutations
by: Atefeh Khosh-Aeen, et al.
Published: (2004-06-01)

GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder
by: Hong Xia, et al.
Published: (2019-02-01)

GJB2 Mutations Screening in Autosomal Recessive Non-Syndrome Deaf Patients of Khouzestan Province
by: Kimia Kahrizi, et al.
Published: (2006-10-01)

A Novel De Novo Dominant Mutation in GJB2 Gene Associated with a Sporadic Case of Nonsyndromic Sensorineural Hearing Loss.
by: Habib Onsori, et al.
Published: (2014-12-01)

Prevalence of 35delG mutation in GJB2 gene in the Moldovan population
by: Anastasia Buza, et al.
Published: (2020-10-01)

Spectrum of Gjb2 Gene Mutations in Nonsyndromic Autosomal Recessive Deaf Patients in Yazd
by: H Najmabadi, et al.
Published: (2005-10-01)

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma
by: Yasuhiro Arai, et al.
Published: (2017-01-01)

Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis
by: Yuting Lu, et al.
Published: (2018-07-01)

"Two Novel Mutations and Predominant 35delG Mutation in the Connexin 26 Gene (GJB2) in Iranian Populations"
by: "M Hashemzadeh Chaleshtori, et al.
Published: (2004-07-01)

Molecular Pathology of 6 Novel GJB2 Allelic Variants Detected in Familial and Sporadic Iranian Non Syndromic Hearing Loss Cases
by: M Hashemzadeh Chaleshtori, et al.
Published: (2008-09-01)

Molecular Pathology of 6 Novel GJB2 Allelic Variants Detected in Familial and Sporadic Iranian Non Syndromic Hearing Loss Cases
by: M Hashemzadeh Chaleshtori, et al.
Published: (2008-09-01)

Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation
by: Masoumeh Falah, et al.
Published: (2011-05-01)

Conservation of polymorphism in GJB2 gene markers in Iranian population by balancing selection
by: Halimeh Rezaei, et al.
Published: (2013-06-01)

Developmental abnormalities in supporting cell phalangeal processes and cytoskeleton in the Gjb2 knockdown mouse model
by: Sen Chen, et al.
Published: (2018-02-01)

<i>GJB2</i> Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal
by: Yacouba Dia, et al.
Published: (2022-05-01)

Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics
by: Kimia Kahrizi, et al.
Published: (2007-10-01)

A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family
by: Raquel Rabionet, et al.
Published: (2006-01-01)

Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation
by: Hongyang Wang, et al.
Published: (2021-02-01)

Volumetric Analysis of Hearing-Related Structures of Brain in Children with GJB2-Related Congenital Deafness
by: Matthias W. Wagner, et al.
Published: (2022-05-01)

Research progress in delineating the pathological mechanisms of GJB2-related hearing loss
by: Yujun Wang, et al.
Published: (2023-06-01)

The Cause of Hereditary Hearing Loss in <i>GJB2</i> Heterozygotes—A Comprehensive Study of the <i>GJB2</i>/DFNB1 Region
by: Dana Safka Brozkova, et al.
Published: (2021-05-01)

Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness
by: Marina Davcheva-Chakar, et al.
Published: (2014-03-01)

Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations
by: Agnieszka Sanecka, et al.

Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss
by: M. Martínez-Saucedo, et al.
Published: (2017-04-01)

Investigating the relationship of genetic mutations in GJB2 and linkage analysis of DFNB4 Locus in a group of non-syndromic hearing impaired people with autosomal recessive inheritance in Hormozgan
by: Najmeh Ahangari, et al.
Published: (2014-12-01)

GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population
by: Cláudia Sousa Reis, et al.
Published: (2021-08-01)