scholarly journals Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Pavithra Amritkumar ◽  
Justin Margret Jeffrey ◽  
Jayasankaran Chandru ◽  
Paridhy Vanniya S ◽  
M. Kalaimathi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Assortative Mating ◽  
South India ◽  
Hearing Impaired ◽  
Hereditary Hearing Loss

scholarly journals GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population

2021 ◽  
Vol 34 (13) ◽  
Author(s):  
Cláudia Sousa Reis ◽  
Ana Cristina Santos ◽  
Henrique Barros ◽  
Susana Fernandes ◽  
Carla Pinto Moura
Keyword(s):  
Hearing Loss ◽  
Caucasian Population ◽  
Hearing Impaired ◽  
Gjb2 Gene ◽  
Common Variants ◽  
Patient Assessment ◽  
Portuguese Population ◽  
Moderate Hearing Loss ◽  
Selection Of

Introduction: Sequence variants in the GJB2 gene account for up to 50% of cases of non-syndromic sensorineural hearing loss in the Caucasian population. In this study, we report the frequency of the less common variants of the GJB2 gene in a Portuguese sample and compare these frequencies with those of a group of hearing-impaired patients.Material and Methods: In order to select the less common GJB2 variants, 147 hearing-impaired patients followed in Centro Hospitalar Universitário de São João were evaluated. Afterwards, the presence of those variants was tested in 360 individuals from Generation 21.Results: The patient assessment enabled the selection of 11 GJB2 variants. Of those, 10 were investigated in Generation 21 participants, with only four being detected, in heterozygosity: p.Phe83Leu, p.Arg127His, p.Val153Ile and p.Asn206Ser, with the allelic frequencies (95% confidence interval) of 0.14% (0.01% - 0.87%), 0.28% (0.01% - 1.08%), 0.97% (0.43% - 2.04%) and 0.14% (0.01% - 0.88%), respectively. Two variants, p.Val37Ile and p.Val95Met, were more frequent in the patients’ group with statistical significance.Discussion: Our results allow for the p.Arg127His and p.Val153Ile variants to comply with polymorphism criteria and support the pathogenicity of p.Val37Ile and p.Val95Met variants. Moreover, two cases of moderate hearing loss were explained by the p.Val37Ile/p. Asn206Ser genotype, substantiating both the pathogenicity of such variants and the hypothesis that compound heterozygosity with p.Ans206Ser is associated with mild-moderate genotypes.Conclusion: Understanding the role of the variants is essential in order to provide genetic counselling to patients and their families. We explored a set of uncommon GJB2 variants that comprised 12% of the hearing-impaired patients in this study, supporting the relevance of their description.

New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss

2017 ◽  
Vol 38 (10) ◽  
pp. 1421-1431 ◽  
Author(s):  
Wenjun Xia ◽  
Jiongjiong Hu ◽  
Fei Liu ◽  
Jing Ma ◽  
Shaoyang Sun ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Hereditary Hearing Loss

Hereditary Hearing Loss - the Role of Environmental Factors

2000 ◽  
Vol 120 (543) ◽  
pp. 70-72 ◽  
Author(s):  
R. Kaksonen, I. Pyykkö, J. Kere, J. St
Keyword(s):  
Hearing Loss ◽  
Environmental Factors ◽  
Hereditary Hearing Loss

Advances in genetic diagnostics for hereditary hearing loss

2013 ◽  
Vol 24 (3) ◽  
pp. 165-170
Author(s):  
Natali Idan ◽  
Zippora Brownstein ◽  
Shaked Shivatzki ◽  
Karen B. Avraham
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Linkage Analysis ◽  
Significant Proportion ◽  
Hearing Impaired ◽  
Genetic Diagnostics ◽  
Genetic Mutations ◽  
Hereditary Hearing Loss ◽  
Generation Sequencing

Abstract Hereditary hearing loss affects a significant proportion of the hearing impaired, with genetic mutations estimated to be responsible for its etiology in over 50% of this population. The methods for molecular diagnostics are changing as a result of the transition from linkage analysis to next generation sequencing to identify the genes responsible for hearing loss in affected families. In this review, we summarize the attitudes of the hearing impaired towards genetic testing, the latest techniques for identifying mutations, and provide a comprehensive list of the mutations found in the Israeli Jewish hearing-impaired population.

Teacher Identification of Elementary School Children with Hearing Loss

1978 ◽  
Vol 9 (1) ◽  
pp. 24-28 ◽  
Author(s):  
Richard H. Nodar
Keyword(s):  
Elementary School ◽  
Hearing Loss ◽  
School Children ◽  
Elementary School Children ◽  
Total Sample ◽  
Hearing Impaired ◽  
Teacher Interviews ◽  
Teacher Screening ◽  
Children With Hearing Loss ◽  
Hearing Problems

The teachers of 2231 elementary school children were asked to identify those with known or suspected hearing problems. Following screening, the data were compared. Teachers identified 5% of the children as hearing-impaired, while screening identified only 3%. There was agreement between the two procedures on 1%. Subsequent to the teacher interviews, rescreening and tympanometry were conducted. These procedures indicated that teacher screening and tympanometry were in agreement on 2% of the total sample or 50% of the hearing-loss group. It was concluded that teachers could supplement audiometry, particularly when otoscopy and typanometry are not available.

Moderating Role of Stress, Anxiety, and Depression in the Relationship Between Tinnitus and Hearing Loss Among Patients

2020 ◽  
Vol 34 (4) ◽  
pp. 753-772
Author(s):  
Ammar Ahmed ◽  
Muhammad Aqeel ◽  
Tanvir Akhtar ◽  
Sammeen Salim ◽  
Bashir Ahmed
Keyword(s):  
Hearing Loss ◽  
Psychological Problems ◽  
Anxiety And Depression ◽  
Adaptation Level ◽  
Depression Anxiety Stress Scale ◽  
Neuropsychological Theory ◽  
Anxiety Depression ◽  
The Relationship ◽  
Moderating Role

Adaptation level theory of tinnitus and neuropsychological theory of tinnitus are extensively used frameworks for understanding emotional and psychological distress among tinnitus sufferers. Objective of the present study was to investigate potential associations between hearing loss, tinnitus, anxiety, depression, and stress. The Tinnitus Handicap Inventory (Newman, Jacobson, & Spitzer, 1996) and the Depression, Anxiety, Stress Scale (Lovibond & Lovibond, 1995)scales were administered to a sample of 110 tinnitus outpatients recruited from Audiology departments of Lahore and Rawalpindi hospitals. Results revealed tinnitus was positively linked with psychological problems. Additionally, it was established that tinnitus is a positive significant predictor for anxiety, stress and depression. The moderation models related to the interactions between psychological problems and hearing loss were negative significant predictors for tinnitus symptoms. Moreover, the comparative analysis between gender differences revealed a significant diversity in the levels of stress, anxiety, and depression. Results also elucidated that patients at initial stages of hearing loss were more prone towards reporting tinnitus symptoms along with emerging psychological problems.

The impact of hearing loss

ORL ro ◽  
2016 ◽  
Vol 4 (1) ◽  
pp. 64-65
Author(s):  
Mădălina Georgescu ◽  
Violeta Necula ◽  
Sebastian Cozma
Keyword(s):  
Hearing Loss ◽  
Health Services ◽  
Hard Of Hearing ◽  
Hearing Impaired ◽  
Public Health Issue ◽  
Health Politics ◽  
Universal Newborn Hearing Screening ◽  
Newborn Hearing ◽  
Impaired Person ◽  
The Impact

Hearing loss represents a frequently met sensorial handicap, which has a major and complex impact not only on the hearing-impaired person, but also on his family and society. The large number of hard-of-hearing persons justifies the acknowledgement of hearing loss as a public health issue, which oblige to appropriate health politics, to offer each hearing-impaired person health services like those in Europe. These can be obtained through: appropriate legislation for mandatory universal newborn hearing screening; national program for follow-up of hearing-impaired children up to school age; national register of hard-of-hearing persons; smooth access to rehabilitation methods; appropriate number of audiologists, trained for health services at European standards, trained through public programs of education in the field of audiology.  

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