BIOMAT Database Logo BIOMAT Database Logo

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss. 2002

Hossein Najmabadi, and Robert A Cucci, and Solmaz Sahebjam, and Nafiseh Kouchakian, and Mohammad Farhadi, and Kimia Kahrizi, and Sanaz Arzhangi, and Naiimeh Daneshmandan, and Khalil Javan, and Richard J H Smith
Genetic Research Center, Welfare Science & Rehabilitation University, Tehran, Iran. Hnajm@mavara.com

Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for approximately 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that encodes the gap junction protein connexin 26 (Cx26). This study investigates the contribution of GJB2 to the autosomal recessive non-syndromic deafness (ARNSD) load in the Iranian population. One hundred sixty eight persons from 83 families were studied. GJB2-related deafness was diagnosed in 9 families (4, 35delG homozygotes; 3, 35delG compound heterozygotes; 1, W24X homozygote; 1, non-35delG compound heterozygote). The carrier frequency of the 35delG allele in this population was approximately 1% (1/83). Because the relative frequency of Cx26 mutations is much less than in the other populations, it is possible that mutations in other genes play a major role in ARNSD in Iran.

UI MeSH Term Description Entries
D007492 Iran A country bordering the Gulf of Oman, the Persian Gulf, and the Caspian Sea, between Iraq and Pakistan. The capital is Tehran. Islamic Republic of Iran
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006311 Hearing Disorders Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways. Distorted Hearing,Dysacusis,Paracousis,Paracusis,Hearing Disorder,Hearing, Distorted
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000072259 Connexin 26 A gap junction protein encoded by the Gap Junction Beta 2 or GJB2 gene. In the cochlea and epidermis, its hexamers form channels between cells that open to allow cell-to-cell diffusion of small molecules as well as recycling of potassium. Mutations in Connexin 26 are associated with congenital SENSORINEURAL HEARING LOSS. Connexin Cx26,Connexin beta-2,Gap Junction beta-2 protein,beta2 Connexin,26, Connexin,Connexin beta 2,Connexin, beta2,Cx26, Connexin,Gap Junction beta 2 protein,beta-2, Connexin
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D017630 Connexins A group of homologous proteins which form the intermembrane channels of GAP JUNCTIONS. The connexins are the products of an identified gene family which has both highly conserved and highly divergent regions. The variety contributes to the wide range of functional properties of gap junctions. Connexin,Connexin Complex Proteins,Gap Junction Proteins,Gap Junction Channel Proteins,Gap Junction Protein,Junction Protein, Gap,Junction Proteins, Gap

Related Publications

Hossein Najmabadi, and Robert A Cucci, and Solmaz Sahebjam, and Nafiseh Kouchakian, and Mohammad Farhadi, and Kimia Kahrizi, and Sanaz Arzhangi, and Naiimeh Daneshmandan, and Khalil Javan, and Richard J H Smith
Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.
July 2014, Molecular medicine reports,
Hossein Najmabadi, and Robert A Cucci, and Solmaz Sahebjam, and Nafiseh Kouchakian, and Mohammad Farhadi, and Kimia Kahrizi, and Sanaz Arzhangi, and Naiimeh Daneshmandan, and Khalil Javan, and Richard J H Smith
Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.
August 2016, Acta oto-laryngologica,
Hossein Najmabadi, and Robert A Cucci, and Solmaz Sahebjam, and Nafiseh Kouchakian, and Mohammad Farhadi, and Kimia Kahrizi, and Sanaz Arzhangi, and Naiimeh Daneshmandan, and Khalil Javan, and Richard J H Smith
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
November 2011, Current genomics,
Hossein Najmabadi, and Robert A Cucci, and Solmaz Sahebjam, and Nafiseh Kouchakian, and Mohammad Farhadi, and Kimia Kahrizi, and Sanaz Arzhangi, and Naiimeh Daneshmandan, and Khalil Javan, and Richard J H Smith
Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population.
January 2021, Journal of medicine and life,
Hossein Najmabadi, and Robert A Cucci, and Solmaz Sahebjam, and Nafiseh Kouchakian, and Mohammad Farhadi, and Kimia Kahrizi, and Sanaz Arzhangi, and Naiimeh Daneshmandan, and Khalil Javan, and Richard J H Smith
[Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?].
March 2006, Laryngo- rhino- otologie,
Hossein Najmabadi, and Robert A Cucci, and Solmaz Sahebjam, and Nafiseh Kouchakian, and Mohammad Farhadi, and Kimia Kahrizi, and Sanaz Arzhangi, and Naiimeh Daneshmandan, and Khalil Javan, and Richard J H Smith
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
February 2012, American journal of medical genetics. Part A,
Hossein Najmabadi, and Robert A Cucci, and Solmaz Sahebjam, and Nafiseh Kouchakian, and Mohammad Farhadi, and Kimia Kahrizi, and Sanaz Arzhangi, and Naiimeh Daneshmandan, and Khalil Javan, and Richard J H Smith
Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.
December 2012, Molecular biology reports,
Hossein Najmabadi, and Robert A Cucci, and Solmaz Sahebjam, and Nafiseh Kouchakian, and Mohammad Farhadi, and Kimia Kahrizi, and Sanaz Arzhangi, and Naiimeh Daneshmandan, and Khalil Javan, and Richard J H Smith
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
April 2018, International journal of pediatric otorhinolaryngology,
Hossein Najmabadi, and Robert A Cucci, and Solmaz Sahebjam, and Nafiseh Kouchakian, and Mohammad Farhadi, and Kimia Kahrizi, and Sanaz Arzhangi, and Naiimeh Daneshmandan, and Khalil Javan, and Richard J H Smith
GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.
August 2007, International journal of pediatric otorhinolaryngology,
Hossein Najmabadi, and Robert A Cucci, and Solmaz Sahebjam, and Nafiseh Kouchakian, and Mohammad Farhadi, and Kimia Kahrizi, and Sanaz Arzhangi, and Naiimeh Daneshmandan, and Khalil Javan, and Richard J H Smith
Sensorineural hearing impairment, non-syndromic: DFNB5, 6, 7. Homozygosity mapping to localize genes causing autosomal recessive non-syndromic hearing loss.
January 2000, Advances in oto-rhino-laryngology,
Copied contents to your clipboard!