A novel dominant missense mutation - D179N - in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss

2003 ◽  
Vol 63 (6) ◽  
pp. 516-521 ◽  
Author(s):  
P Primignani ◽  
P Castorina ◽  
F Sironi ◽  
C Curcio ◽  
U Ambrosetti ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Missense Mutation ◽  
Gjb2 Gene ◽  
Connexin 26 ◽  
Syndromic Hearing Loss

scholarly journals High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

2005 ◽  
Vol 137A (3) ◽  
pp. 255-258 ◽  
Author(s):  
Araceli Álvarez ◽  
Ignacio del Castillo ◽  
Manuela Villamar ◽  
Luis A. Aguirre ◽  
Anna González-Neira ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Connexin 26 ◽  
Gene Encoding ◽  
High Prevalence ◽  
Syndromic Hearing Loss

scholarly journals Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1267
Author(s):  
Anaïs Le Nabec ◽  
Mégane Collobert ◽  
Cédric Le Maréchal ◽  
Rémi Marianowski ◽  
Claude Férec ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Gjb2 Gene ◽  
Whole Genome ◽  
Genetic Origin ◽  
Functional Assays ◽  
Syndromic Hearing Loss ◽  
Sensory Defect

Hearing loss is the most common sensory defect, due in most cases to a genetic origin. Variants in the GJB2 gene are responsible for up to 30% of non-syndromic hearing loss. Today, several deafness genotypes remain incomplete, confronting us with a diagnostic deadlock. In this study, whole-genome sequencing (WGS) was performed on 10 DFNB1 patients with incomplete genotypes. New variations on GJB2 were identified for four patients. Functional assays were realized to explore the function of one of them in the GJB2 promoter and confirm its impact on GJB2 expression. Thus, in this study WGS resolved patient genotypes, thus unlocking diagnosis. WGS afforded progress and bridged some gaps in our research.

scholarly journals Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population

2001 ◽  
Vol 17 (6) ◽  
pp. 521-522 ◽  
Author(s):  
Heinz Gabriel ◽  
Petra Kupsch ◽  
J�rgen Sudendey ◽  
Elke Winterhager ◽  
Klaus Jahnke ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gjb2 Gene ◽  
German Population ◽  
Common Event ◽  
Syndromic Hearing Loss

scholarly journals Connexin 26 Gene Mutations in Non-Syndromic Hearing Loss Among Kuwaiti Patients

2014 ◽  
Vol 23 (1) ◽  
pp. 74-79 ◽  
Author(s):  
Khalid Al-Sebeih ◽  
Marium Al-Kandari ◽  
Sadika A. Al-Awadi ◽  
Fatma F. Hegazy ◽  
Ghada A. Al-Khamees ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Connexin 26 ◽  
Syndromic Hearing Loss

scholarly journals Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss

2009 ◽  
Vol 63 (4-5) ◽  
pp. 198-203
Author(s):  
Olga Šterna ◽  
Natālija Proņina ◽  
Ieva Grīnfelde ◽  
Sandra Kušķe ◽  
Astrīda Krūmiņa ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Gjb2 Gene ◽  
Connexin 26 ◽  
Compound Heterozygous ◽  
Nonsyndromic Hearing Loss ◽  
Profound Hearing Loss ◽  
Common Cause ◽  
Gjb2 Mutation ◽  
35Delg Mutation

Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.

Association of GJB2 gene mutation with cochlear implant performance in genetic non-syndromic hearing loss

2011 ◽  
Vol 75 (12) ◽  
pp. 1572-1575 ◽  
Author(s):  
Recep Karamert ◽  
Yildirim A. Bayazit ◽  
Senay Altinyay ◽  
Akın Yılmaz ◽  
Adnan Menevse ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Gene Mutation ◽  
Gjb2 Gene ◽  
Syndromic Hearing Loss

scholarly journals Post-lingual non-syndromic hearing loss phenotype: a novel homozygous missense mutation in MITF

2019 ◽  
Author(s):  
Athar Khalil ◽  
Samer Bou Karroum ◽  
Rana Barake ◽  
Gabriel Dunya ◽  
Samer Abou-Rizk ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Missense Mutation ◽  
The Novel ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Whole Exome ◽  
Genetic Hearing Loss ◽  
Syndromic Hearing Loss ◽  
And Function

Abstract Background Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. Methods In the current study, we report a multifactorial genetic mode of inheritance in a NSHL consanguineous family using exome sequencing technology. We evaluated the possible effects of the single nucleotide variants (SNVs) detected in our patients using in silico methods. Results Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel p. Pro338Leu missense mutation on the MITF protein was predicted to change the protein structure and function. Conclusion The novel MITF variant is the first bi-allelic SNV in this gene to be associated with an autosomal recessive non-syndromic HL case with a post-lingual onset. Our findings highlight the importance of whole exome sequencing for a comprehensive assessment of the genetic heterogeneity of HL.

scholarly journals Investigating GJB2 Mutation in 31 Individuals With Non-syndromic Hearing Loss

2021 ◽  
Vol 24 (1) ◽  
pp. 50-61
Author(s):  
Pedram Pouryari Biyachal ◽  
◽  
Najmeh Ranji ◽  
Ali Nazemi ◽  
◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cross Sectional Study ◽  
Gjb2 Gene ◽  
Common Mutation ◽  
Cross Sectional ◽  
Gjb2 Mutation ◽  
Syndromic Hearing Loss ◽  
Pcr Method ◽  
Gilan Province ◽  
35Delg Mutation

Background and Aim: Non-syndromic hearing loss is a genetically heterogeneous disorder. Mutation in the GJB2 gene is a major cause of non-syndromic hearing loss in numerous countries. This study aimed to evaluate GJB2 mutations in 31 individuals with non-syndromic hearing loss Methods & Materials: In this descriptive cross-sectional study, the required blood samples were collected from 31 individuals with non-syndromic hearing loss in Rasht and Bandar Anzali Cities, Gilan Province, Iran. After DNA isolation, the GJB2 gene was amplified by the PCR method and underwent sequencing. Ethical Considerations:This study was approved by the Ethics Committee of the Islamic Azad University, Mashhad Branch (Code: IR.IAU.MSHD.REC.1398.027). Results: In this study, 3 mutations were determined in 18 individuals with hearing loss. Accordingly, 35delG mutation had the highest frequency (48.38%) in individuals with hearing loss as homozygote (n=14) and heterozygote (n=2). A patient with heterozygosity in V153I mutation and a patient with compound heterozygosity in 35delG/G200R mutation was determined. Conclusion: It appears that 35delG mutation is a common mutation in the GJB2 gene in individuals with non-syndromic hearing loss in Guilan Province.

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