scholarly journals DNA Marker Screening for High-Risk Non-syndromic Hearing Loss Associated to Gene Mutations

2022 ◽  
Vol 16 (1) ◽  
Keyword(s):  
Hearing Loss ◽  
High Risk ◽  
Dna Marker ◽  
Gene Mutations ◽  
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 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

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

Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography

2008 ◽  
Vol 122 (12) ◽  
pp. 1284-1288 ◽  
Author(s):  
Z Siti Aishah ◽  
M D Mohd Khairi ◽  
A R Normastura ◽  
Z Zafarina ◽  
B A Zilfalil
Keyword(s):  
Hearing Loss ◽  
High Performance Liquid Chromatography ◽  
Gap Junction ◽  
High Performance ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Junction Protein ◽  
Syndromic Hearing Loss ◽  
Gap Junction Protein ◽  
Beta 2

AbstractObjective:To determine the frequency and type of gap junction protein beta-2 gene mutations in Malay patients with autosomal recessive, non-syndromic hearing loss.Methods:A total of 33 Malay patients with autosomal recessive, non-syndromic hearing loss were screened for mutations in the Cx26 coding region. Deoxyribonucleic acid was extracted from buccal swab samples and subjected to polymerase chain reaction. Slow-reannealing was performed, followed by screening using denaturing high performance liquid chromatography.Results:Eight of the samples (24.2 per cent) showed heterozygous peaks, and further sequencing of these samples revealed four patients (50.0 per cent) with the W24X mutation, two (25.0 per cent) with the V37I mutation and another two (25.0 per cent) with the G4D mutation.Conclusions:Analysis of buccal swab samples by denaturing high performance liquid chromatography is noninvasive and suitable for rapid and reliable screening of gap junction protein beta-2 gene mutations in patients with autosomal recessive, non-syndromic hearing loss. Malay patients with autosomal recessive, non-syndromic hearing loss have different kinds of gap junction protein beta-2 gene mutations which are rarely found in other populations.

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome sequencing

2020 ◽  
Vol 98 (6) ◽  
pp. 548-554
Author(s):  
Dana Safka Brozkova ◽  
Simona Poisson Marková ◽  
Anna Uhrová Mészárosová ◽  
Ján Jenčík ◽  
Vlasta Čejnová ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Gene Mutations ◽  
Gene Panel ◽  
Gjb2 Gene ◽  
Whole Exome ◽  
Syndromic Hearing Loss

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

2020 ◽  
Vol 65 (10) ◽  
pp. 855-864
Author(s):  
Federica Cesca ◽  
Elisa Bettella ◽  
Roberta Polli ◽  
Emanuela Leonardi ◽  
Maria Cristina Aspromonte ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Syndromic Hearing Loss

scholarly journals Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran

2020 ◽  
Author(s):  
Farnoush ALIAZAMI ◽  
Dariush D. FARHUD ◽  
Marjan ZARIF-YEGANEH ◽  
Siamak SALEHI ◽  
Azam HOSSEINIPOUR ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Dna Sequencing ◽  
Gene Mutations ◽  
Sensorineural Deafness ◽  
Heterozygous Mutation ◽  
Coding Region ◽  
Dominant Form ◽  
Direct Dna Sequencing ◽  
Junction Protein ◽  
Syndromic Hearing Loss

Background: Hearing loss (HL) is one of the most common heterogeneous congenital disabilities worldwide. Gap junction protein β-3 (GJB3) gene encodes Connexin31 protein (Cx31). The hereditary type of hearing impairment in this gene are known to cause both autosomal recessive and autosomal dominant form. In addition, GJB3 mutations have been involved in sensorineural deafness, erythrokeratodermia variabilis (EKV), and neuropathy diseases. We aimed to investigate GJB3 mutations in people suffering from HL among three different ethnicities of Iranian population (Baloch, Kurd, and Turkmen). Methods: In this descriptive study, 50 GJB2-negative non-syndromic hearing loss (NSHL) Iranian individuals from 3 ethnic groups of Baloch (n=17), Kurd (n =15) and Turkmen (n=18) were enrolled.  DNA extractions, PCR, and mutation detection was carried out for the two large deletions of the GJB6, del (GJB6 -D13S1830,) and del (GJB6 -D13S1854) followed by direct DNA sequencing method for the GJB3. Results: DNA sequencing of GJB3 was shown a missense heterozygous mutation rs199689484 (NM_024009.3) GJB3: c.340G>A (p.Ala114Thr) in a Baloch patient, and a polymorphism rs35983826 (NM_024009.3) GJB3: c.798C>T (p.Asn266=) in a Turkman patient, in coding region of the GJB3. We did not detect del (GJB6 -D13S1830) and del (GJB6 -D13S1854) among these three ethnicities in Iran. Conclusion: Deafness is a heterogeneous disorder. Specific genes and mutations contribute to hearing loss that varies from locus to locus as well as from population to population.

Sign in / Sign up

Export Citation Format

Share Document