Molecular genetic landscape of hereditary hearing loss in Pakistan

2021 ◽  
Author(s):  
Sadaf Naz
Keyword(s):  
Hearing Loss ◽  
Molecular Genetic ◽  
Hereditary Hearing Loss ◽  
Genetic Landscape

scholarly journals Novel gene discovery for hearing loss and other routes to increased diagnostic rates

2021 ◽  
Author(s):  
Hannie Kremer
Keyword(s):  
Hearing Loss ◽  
Molecular Genetic ◽  
Therapeutic Strategies ◽  
Regulatory Mechanisms ◽  
Genetic Diagnostics ◽  
Bioinformatic Tools ◽  
Collaborative Studies ◽  
Genetic Landscape ◽  
Molecular Genetic Diagnostics ◽  
Analytical Tools

AbstractDespite decades of research, there is much to be learned about the genetic landscape of sensorineural hearing loss. Novel genes for hearing loss remain to be identified while ‘secrets’ of the known genes need to be uncovered. These ‘secrets’ include regulatory mechanisms of gene activity and novel aspects of gene structure. To obtain a more complete picture of the genetics of hearing loss, the available experimental and bioinformatic tools need to be fully exploited. This is also true for data resources such as ENCODE. For the inner ear, however, such data resources and analytical tools need to be developed or extended. Collaborative studies provide opportunities to achieve this and to optimally use those tools and resources that are already available. This will accelerate the discoveries that are necessary for improving molecular genetic diagnostics and genetic counselling and for the development of therapeutic strategies.

Non-syndromic hearing loss: clinical and diagnostic challenges

2020 ◽  
Vol 32 (2) ◽  
pp. 117-129
Author(s):  
Barbara Vona ◽  
Julia Doll ◽  
Michaela A. H. Hofrichter ◽  
Thomas Haaf
Keyword(s):  
Hearing Loss ◽  
Diagnostic Yield ◽  
Molecular Genetic ◽  
Diagnostic Testing ◽  
Genetic Diagnosis ◽  
Treatment Modalities ◽  
Hereditary Hearing Loss ◽  
Planning Decisions ◽  
Preclinical Trials ◽  
Syndromic Hearing Loss

Abstract Hereditary hearing loss is clinically and genetically heterogeneous. There are presently over 120 genes that have been associated with non-syndromic hearing loss and many more that are associated with syndromic forms. Despite an increasing number of genes that have been implemented into routine molecular genetic diagnostic testing, the diagnostic yield from European patient cohorts with hereditary hearing loss remains around the 50 % mark. This attests to the many gaps of knowledge the field is currently working toward resolving. It can be expected that many more genes await identification. However, it can also be expected, for example, that the mutational signatures of the known genes are still unclear, especially variants in non-coding or regulatory regions influencing gene expression. This review summarizes several challenges in the clinical and diagnostic setting for hereditary hearing loss with emphasis on syndromes that mimic non-syndromic forms of hearing loss in young children and other factors that heavily influence diagnostic rates. A molecular genetic diagnosis for patients with hearing loss opens several additional avenues, such as patient tailored selection of the best currently available treatment modalities, an understanding of the prognosis, and supporting family planning decisions. In the near future, a genetic diagnosis may enable patients to engage in preclinical trials for the development of therapeutics.

Diagnosis and Molecular Biology of Hereditary Hearing Loss

1995 ◽  
Vol 112 (5) ◽  
pp. P102-P102
Author(s):  
Richard J.H. Smith ◽  
Kenneth M. Grundfast
Keyword(s):  
Hearing Loss ◽  
Molecular Biology ◽  
Hearing Impairment ◽  
Clinical Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Genetic Studies ◽  
Hereditary Hearing Loss ◽  
Hereditary Hearing Impairment

Educational objectives: To understand the types of hereditary hearing impairment (autosomal dominant, autosomal recessive, X-linked, mitochondrial, syndromic, nonsyndromic) and the importance of clinical diagnosis in molecular genetic studies of hereditary hearing impairment.

NUMERICAL COEFFICIENT FOR ENDOMETRIAL CANCER INDIVIDUAL RISK EVALUATION IN POSTMENOPAUSAL WOMEN

2017 ◽  
Vol 63 (3) ◽  
pp. 461-465
Author(s):  
Lev Bershteyn ◽  
Dmitriy Vasilev ◽  
Tatyana Poroshina ◽  
Igor Berlev
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Risk Evaluation ◽  
Tumor Response ◽  
Molecular Genetic ◽  
Response To Treatment ◽  
Individual Risk ◽  
The Past ◽  
Genetic Landscape ◽  
Numerical Coefficient

Increased frequency of endometrial cancer (EC) since the beginning of this century exceeds that of breast cancer and to a large extent can be attributed to dynamics of parameters, which characterize hormonal and metabolic status of ill women and molecular genetic landscape of transforming endometrium. During the past few years there are suggested several options for a personalized assessment of the risk of EC. The aim of this article is to propose and justify own version of this score with the idea of its further not only retrospective but also prospective testing both in relation to the risk of developing endometrial cancer as well as an additional marker helping to predict tumor response to treatment.

Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries

2021 ◽  
Author(s):  
Abdullah Al Mutery ◽  
Mona Mahfood ◽  
Jihen Chouchen ◽  
Abdelaziz Tlili
Keyword(s):  
Hearing Loss ◽  
Gulf Cooperation Council ◽  
Genetic Etiology ◽  
Hereditary Hearing Loss

scholarly journals Milestones toward cochlear gene therapy for patients with hereditary hearing loss

2021 ◽  
Author(s):  
Hidekane Yoshimura ◽  
Shin‐Ya Nishio ◽  
Shin‐Ichi Usami
Keyword(s):  
Gene Therapy ◽  
Hearing Loss ◽  
Hereditary Hearing Loss

scholarly journals Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

2015 ◽  
Vol 60 (10) ◽  
pp. 613-617 ◽  
Author(s):  
Mirei Taniguchi ◽  
Hirotaka Matsuo ◽  
Seiko Shimizu ◽  
Akiyoshi Nakayama ◽  
Koji Suzuki ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Carrier Frequency ◽  
Japanese Population ◽  
Hereditary Hearing Loss ◽  
Gjb2 Mutations

scholarly journals Perda auditiva genética

2003 ◽  
Vol 69 (1) ◽  
pp. 100-104 ◽  
Author(s):  
Ricardo Godinho ◽  
Ivan Keogh ◽  
Roland Eavey
Keyword(s):  
Hearing Loss ◽  
Home Page ◽  
Hereditary Hearing Loss

O progresso das pesquisas relacionadas à perda auditiva genética tem provocado um importante avanço do entendimento dos mecanismos moleculares que governam o desenvolvimento, a função, a resposta ao trauma e o envelhecimento do ouvido interno. Em países desenvolvidos, mais de 50% dos casos de surdez na infância é causada por alterações genéticas e as perdas auditivas relacionadas à idade têm sido associadas com mecanismos genéticos. OBJETIVO: O objetivo desta revisão é relatar as informações mais recentes relacionadas às perdas audtivas de origem genética. FORAMA DE ESTUDO: Revisão sistemática. MATERIAL E MÉTODO: A revisão da literatura inclui artigos indexados à MEDLINE (Biblioteca Nacional de Saúde, NIH-USA) e publicados nos últimos 3 anos, além das informações disponíveis na Hereditary Hearing Loss Home Page. CONCLUSÃO: Os recentes avanços no entendimento das perdas auditivas de origem genética têm favorecido a nossa compreensão da função auditiva e tornado o diagnóstico mais apurado. Possivelmente, no futuro, este conhecimento também proporcionará o desenvolvimento de novas terapias para o tratamento das causas genéticas das perdas auditivas.

scholarly journals Hereditary Hearing Loss and its Syndromes

1995 ◽  
Vol 32 (9) ◽  
pp. 760-760
Author(s):  
W. Reardon
Keyword(s):  
Hearing Loss ◽  
Hereditary Hearing Loss

scholarly journals Mouse models to study inner ear development and hereditary hearing loss

2007 ◽  
Vol 51 (6-7) ◽  
pp. 609-631 ◽  
Author(s):  
Lilach M. Friedman ◽  
Amiel A. Dror ◽  
Karen B. Avraham
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Mouse Models ◽  
Ear Development ◽  
Hereditary Hearing Loss ◽  
Inner Ear Development
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