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 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 Genetics of non Syndromic Hearing Loss in the Republic of Macedonia

2012 ◽  
Vol 15 (Supplement) ◽  
pp. 57-59 ◽  
Author(s):  
Emilija Sukarova Stefanovska ◽  
D Plaseska Karanfilska ◽  
M Cakar ◽  
I Filipce
Keyword(s):  
Hearing Loss ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Developed Countries ◽  
Deaf Children ◽  
Mtdna Mutations ◽  
Republic Of Macedonia ◽  
Syndromic Hearing Loss ◽  
The Republic ◽  
Genetic And Environmental Factors

ABSTRACT Hearing impairment is the most common sensory deficit in humans affecting 1 in 1000 newborns. When present in an infant, deafness may have dramatic effects on language acquisition, seriously compromising the quality of their life. Deafness is influenced by both genetic and environmental factors, with inherited causes as the most prominent etiological factor in deafness in developed countries. The genetic basis of hearing loss is complex with numerous loci and genes underlying hereditary sensoryneural non syndromic hearing loss (NSHL) in humans. Despite the wide functional heterogeneity of the genes, mutations in the GJB2 gene are found to be the most common cause of sporadic and recessive NSHL in many populations worldwide. Molecular characterization of deafness in the Republic of Macedonia was performed in 130 NSHL profoundly deaf children from different ethnic origins. Molecular studies included direct sequencing of the GJB2 gene and specific polymerase chain reaction (PCR) analyses for the del(GJB6- D13S1830) mutation. Five common mitochondrial DNA (mtDNA) mutations [A1555G, 961delT+ C(n), T1095C, C1494T and A827G] were also analyzed using the SNaPShot method. In preliminary studies, GJB2 gene mutations were found in 36.4% of analyzed patients, with predominance of 35delG in Macedonian and Albanian patients and W24X in Gypsy patients, respectively. No del(GJB6- D13S1830) mutation was found. None of the analyzed deafness-associated mutations in mtDNA were identified in the studied patients

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.

Author response for "Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by NGS gene panel and WES"

2020 ◽  
Author(s):  
Dana Safka Brozkova ◽  
Simona Poisson Marková ◽  
Anna Uhrová Mészárosová ◽  
Jan Jencik ◽  
Zdenek Cada ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Gene Panel ◽  
Author Response ◽  
Syndromic Hearing Loss

Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey

2012 ◽  
Vol 127 (1) ◽  
pp. 33-37 ◽  
Author(s):  
Ö Tarkan ◽  
P Sari ◽  
O Demirhan ◽  
M Kiroğlu ◽  
Ü Tuncer ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Autosomal Recessive ◽  
Connexin 26 ◽  
Enzyme Linked Immunosorbent Assay ◽  
Paediatric Patients ◽  
Study Population ◽  
Connexin 30 ◽  
Syndromic Hearing Loss ◽  
35Delg Mutation

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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