The frequency of the homozygote 35delG mutation in the connexin 26 gene in North African with non-syndromic hearing loss: A meta-analysis study

AbstractObjective:Mutations in the genes for connexin 26 (GJB2) and connexin 30 (GJB6) play an important role in autosomal recessive, non-syndromic hearing loss. This study aimed to detect the 35delG and 167delT mutations of theGJB2gene and the del(GJB6-D13S1830) mutation of theGJB6gene in paediatric patients diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation in Mediterranean Turkey.Materials and method:We included 94 children diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation. Blood samples were collected, DNA extracted and an enzyme-linked immunosorbent assay performed to enable molecular diagnosis of mutations.Results:Of the 94 children analysed, the 35delG mutation was detected in 12 (12.7 per cent): 10 (83.3 per cent) were homozygous and 2 (16.7 per cent) heterozygous mutant. The 167delT and del(GJB6-D13S1830) mutations were not detected.Conclusion:The GJB2-35delG mutation is a major cause of congenital, non-syndromic hearing loss in this study population.

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GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2–35delG mutation

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2007.04.019 ◽

2007 ◽

Vol 71 (8) ◽

pp. 1239-1245 ◽

Cited By ~ 28

Author(s):

Omar Abidi ◽

Redouane Boulouiz ◽

Halima Nahili ◽

Mohammed Ridal ◽

Mohamed Noureddine Alami ◽

...

Keyword(s):

Hearing Loss ◽

Carrier Frequency ◽

Autosomal Recessive ◽

Gene Mutations ◽

Connexin 26 ◽

Syndromic Hearing Loss ◽

The Common ◽

35Delg Mutation ◽

Moroccan Patients

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

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.30884 ◽

2005 ◽

Vol 137A (3) ◽

pp. 255-258 ◽

Cited By ~ 52

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

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

Medical Principles and Practice ◽

10.1159/000348304 ◽

2014 ◽

Vol 23 (1) ◽

pp. 74-79 ◽

Cited By ~ 5

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

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

Proceedings of the Latvian Academy of Sciences Section B Natural Exact and Applied Sciences ◽

10.2478/v10046-009-0031-8 ◽

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.

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

Journal of Arak University of Medical Sciences ◽

10.32598/jams.24.1.4277.6 ◽

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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