scholarly journals Screening of 35delG, W24X, W77X and Q124X Variants in connexin 26 gene associated with Non-Syndromic Hearing Impairment

2020 ◽  
Vol 5 (3) ◽  
pp. 28
Author(s):  
Smita Hegde ◽  
Rajat Hegde ◽  
Suyamindra Kulkarni ◽  
Kusal Das ◽  
Pramod Gai ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Connexin 26 ◽  
Syndromic Hearing Impairment

scholarly journals Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

2007 ◽  
Vol 15 (11) ◽  
pp. 1145-1155 ◽  
Author(s):  
Marianne Lévêque ◽  
Sandrine Marlin ◽  
Laurence Jonard ◽  
Vincent Procaccio ◽  
Pascal Reynier ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Genome ◽  
Hearing Impairment ◽  
Dna Chip ◽  
Genome Screening ◽  
Syndromic Hearing Impairment

scholarly journals Evidence for Central Asian Origin of the p.Val27Ile Variant in the GJB2 Gene

2014 ◽  
Vol 2014 ◽  
pp. 1-8
Author(s):  
Guille García Sánchez ◽  
Alfonso Alfaro-Rodríguez ◽  
Adrián Poblano
Keyword(s):  
Hearing Impairment ◽  
Mexico City ◽  
Common Ancestor ◽  
Gjb2 Gene ◽  
Wild Type ◽  
Altai Republic ◽  
Asian Origin ◽  
Mexican Mestizo ◽  
Central Asian ◽  
Syndromic Hearing Impairment

The mutations in the GJB2 gene are the most common cause of nonsyndromic hearing impairment and they are associated with the population’s ethnic background. The p.Val27Ile is frequent in both Asia and America. In this retrospective study, we report the findings from the GJB2 screening and the audiological exams conducted on 125 Mexican mestizo patients with non-syndromic hearing impairment; they were treated at the Instituto Nacional de Rehabilitacion in Mexico City. The most frequent audiometric findings were bilateral, symmetrical, and profound hearing impairment. The allele frequencies in the GJB2 screening were p.Val27Ile 15%, other mutations 5%, and wild type 80%. We found no correlation between GJB2 genotype and auditory phenotype. The high allele frequency of p.Val27Ile was a very interesting finding. Our research suggests that p.Val27Ile arose in an ancient common ancestor who lived in Altai Republic and then the polymorphism was brought to America by its first inhabitants, the Amerindians. These results enhance our understanding of the peopling of the America, which remains unresolved.

scholarly journals Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment

2018 ◽  
Vol 55 (8) ◽  
pp. 555-560 ◽  
Author(s):  
Kevin T Booth ◽  
Kimia Kahrizi ◽  
Hossein Najmabadi ◽  
Hela Azaiez ◽  
Richard JH Smith
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Loss Of Function ◽  
Bioinformatics Pipeline ◽  
Exon 2 ◽  
Reading Frame ◽  
Sequencing Platform ◽  
Syndromic Hearing Impairment ◽  
Generation Sequencing

BackgroundHearing loss is a genetically and phenotypically heterogeneous disorder.ObjectivesThe purpose of this study was to determine the genetic cause underlying the postlingual progressive hearing loss in two Iranian families.MethodsWe used OtoSCOPE, a next-generation sequencing platform targeting >150 genes causally linked to deafness, to screen two deaf probands. Data analysis was completed using a custom bioinformatics pipeline, and variants were functionally assessed using minigene splicing assays.ResultsWe identified two homozygous splice-altering variants (c.37G>T and c.662–1G>C) in the CEACAM16 gene, segregating with the deafness in each family. The minigene splicing results revealed the c.37G>T results in complete skipping of exon 2 and loss of the AUG start site. The c.662–1G>C activates a cryptic splice site inside exon 5 resulting in a shift in the mRNA reading frame.ConclusionsThese results suggest that loss-of-function mutations in CEACAM16 result in postlingual progressive hearing impairment and further support the role of CEACAM16 in auditory function.

scholarly journals Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44

2008 ◽  
Vol 73 (4) ◽  
pp. 395-398 ◽  
Author(s):  
A Bhatti ◽  
K Lee ◽  
M-L McDonald ◽  
MJ Hassan ◽  
R Gutala ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Syndromic Hearing Impairment

scholarly journals DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2

2006 ◽  
Vol 120 (1) ◽  
pp. 85-92 ◽  
Author(s):  
Regie Lyn P. Santos ◽  
Muhammad Jawad Hassan ◽  
Shaheen Sikandar ◽  
Kwanghyuk Lee ◽  
Ghazanfar Ali ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Chromosomal Region ◽  
Syndromic Hearing Impairment
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