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

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.

scholarly journals Prevalence of congenital non syndromic hearing loss among offspring of consanguineous marriage: a pilot study

2020 ◽  
Vol 6 (5) ◽  
pp. 874
Author(s):  
Gangadhar K. S. ◽  
Geetha Bhaktha ◽  
Manjula B. ◽  
Nageshwari P.
Keyword(s):  
Hearing Loss ◽  
Consanguineous Marriage ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Junction Protein ◽  
Study Population ◽  
Syndromic Hearing Loss ◽  
Gap Junction Protein ◽  
Polymerase Chain ◽  
Recessive Defect

<p class="abstract"><strong>Background:</strong> Mutations in the gene encoding the gap-junction protein connexin-26, is understood to be the most important cause of non-syndromic hearing loss (NSHL). An attempt to identify the single nucleotide polymorphism (SNP) for W24X mutation was done.  Consanguineous marriage was seen among the NSHL subjects.</p><p class="abstract"><strong>Methods:</strong> SNP was identified using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR).  Forty-five subjects were screened for congenital hearing loss. Twenty subjects matched the inclusion criteria and were included in the study.</p><p class="abstract"><strong>Results:</strong> 5 out of 20 subjects were found to have mutation i.e., 25%. Though consanguinity is known to cause autosomal recessive defect, the same could not be depicted in this study.</p><p class="abstract"><strong>Conclusions:</strong> 25% of the study population had a mutation in their gene and the rest though had consanguineous marriage had not been affected genotypically.</p>

Decreased disulphide/thiol ratio in patients with autosomal recessive non-syndromic hearing loss

2018 ◽  
Vol 112 ◽  
pp. 188-192
Author(s):  
Burhan Balta ◽  
Ramazan Gundogdu ◽  
Murat Erdogan ◽  
Murat Alisik ◽  
Aslihan Kiraz ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Syndromic Hearing Loss

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population

2017 ◽  
Vol 97 ◽  
pp. 113-126 ◽  
Author(s):  
Tohid Ghasemnejad ◽  
Mahmoud Shekari Khaniani ◽  
Fatemeh Zarei ◽  
Mina Farbodnia ◽  
Sima Mansoori Derakhshan
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Iranian Population ◽  
Syndromic Hearing Loss

Whole Exome Sequencing of Six Chinese Families With Hereditary Non-Syndromic Hearing Loss: A Genetic Etiology Study

2020 ◽  
Author(s):  
Pengfei Liang ◽  
Fengping Chen ◽  
Shujuan Wang ◽  
Qiong Li ◽  
Wei Li ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Large Scale ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Chinese Families ◽  
Whole Exome ◽  
Syndromic Hearing Loss

Abstract Background: Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with >152 genes identified as associated molecular causes. The present study aimed to detect the possible damaging variants of the deaf probands from six unrelated Chinese families.Methods: After excluding the mutations in the most common genes, GJB2 and SLC26A4, 12 probands with prelingual deafness and autosomal recessive inheritance were evaluated by whole-exome sequencing (WES). All the candidate variants were verified by Sanger sequencing in all patients and their parents.Results: Biallelic mutations were identified in all deaf patients. Among these six families, 10 potentially causative mutations, including 3 reported and 7 novel mutations, in 3 different deafness-associated autosomal recessive (DFNB) genes (MYO15A, COL11A2, and CDH23) were identified. The mutations in MYO15A were frequent with 7/10 candidate variants. Sanger sequencing confirmed that these mutations segregated with the hearing loss of each family.Conclusions: Next-generation sequencing (NGS) approach becomes more cost-effective and efficient when analyzing large-scale genes compared to the conventional polymerase chain reaction-based Sanger sequencing, which is often used to screen common deafness-related genes. The current findings further extend the mutation spectrum of hearing loss in the Chinese population, which has a positive significance for genetic counseling.

Abnormal Audiograms and Elevated Acoustic Reflex Thresholds in Obligate Carriers of Autosomal Recessive Non-Syndromic Hearing Loss

1997 ◽  
Vol 117 (3) ◽  
pp. 337-342 ◽  
Author(s):  
M. Cohen ◽  
M. Francis ◽  
R. Coffey ◽  
M. E. Pembrey ◽  
L. M. Luxon
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Acoustic Reflex ◽  
Syndromic Hearing Loss

Dips on Békésy or Audioscan Fail to Identify Carriers of Autosomal Recessive Non-Syndromic Hearing Loss

1996 ◽  
Vol 116 (4) ◽  
pp. 521-527 ◽  
Author(s):  
M. Cohen ◽  
M. Francis ◽  
L. M. Luxon ◽  
S. Bellman ◽  
R. Coffey ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Syndromic Hearing Loss
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