Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario

2003 ◽  
Vol 120A (2) ◽  
pp. 180-184 ◽  
Author(s):  
Manjula Maheshwari ◽  
R. Vijaya ◽  
Manju Ghosh ◽  
Shivaram Shastri ◽  
Madhulika Kabra ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Gjb2 Gene ◽  
Syndromic Hearing Impairment ◽  
Indian Scenario

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 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

scholarly journals Audiological features in Serbian patients with hearing impairment identified with c.35delG in the GJB2 gene

2021 ◽  
pp. 98-98
Author(s):  
Bojana Dobric ◽  
Danijela Radivojevic ◽  
Jovana Jecmenica ◽  
Vassos Neocleous ◽  
Pavlos Fanis ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Gjb2 Gene ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Phenotype Correlation ◽  
Pathogenic Variants ◽  
Environmental Causes ◽  
35Delg Mutation

Introduction/Objective. Hearing impairment (HI) is the most common sensorineural disorder with an incidence of 1/700-1000 newborns. Variants in the GJB2 gene are the major cause of autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL). The degree of HI in patients with detected mutations in GJB2 gene ranges from mild to profound. The aim of this study was to determine possible genotype-phenotype association between audiometric characteristics and detected genotypes in ARNSHL patients from Serbia. Methods. Ninety-two patients with ARNSHL underwent genetic analysis with PCR-ARMS and sequencing of the GJB2 gene. Audiological analyses were obtained in all patients using a combination of several methods to estimate the degree of hearing loss. Results. Audiological analysis performed in the 92 probands showed moderate to profound range of hearing loss. All identified pathogenic variants accounted for 42.39% of the mutant alleles (78/184 alleles), with the c.35delG mutation being the most frequent (30.43%). Genotype-phenotype correlation in an isolated group of 37 patients bearing c.35delG in the homozygous, compound heterozygous or heterozygous state. In this group the majority of patients (30/37, 81.08%) exhibited severe to profound hearing deficit. Conclusion. Association between genotype and the degree of hearing impairment in patients analyzed in this study demonstrated that patients with bi-allelic truncating mutations i.e. c.35delG, associate with the more severe hearing loss when compared with those identified with only one affected allele. The various degrees of hearing impairment observed in heterozygous patients could be explained by the presence of an undetected second mutation or other modifier genes or environmental causes.

scholarly journals Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

2019 ◽  
Vol 27 (9) ◽  
pp. 1456-1465 ◽  
Author(s):  
Imen Chakchouk ◽  
Di Zhang ◽  
Zhihui Zhang ◽  
Laurent C. Francioli ◽  
Regie Lyn P. Santos-Cortez ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Pathogenic Variants ◽  
Syndromic Hearing Impairment

scholarly journals DFNB44, a Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus, Maps to Chromosome 7p14.1-q11.22

2004 ◽  
Vol 57 (4) ◽  
pp. 195-199 ◽  
Author(s):  
Muhammad Ansar ◽  
Maria H. Chahrour ◽  
Mohammad Amin ud Din ◽  
Muhammad Arshad ◽  
Sayedul Haque ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Syndromic Hearing Impairment

Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference

2016 ◽  
Vol 41 (5) ◽  
pp. 487-497 ◽  
Author(s):  
A.M.M. Oonk ◽  
P.L.M. Huygen ◽  
H.P.M. Kunst ◽  
H. Kremer ◽  
R.J.E. Pennings
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Syndromic Hearing Impairment
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