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

scholarly journals Genetic hearing loss: a study of 228 Brazilian patients

2000 ◽  
Vol 23 (1) ◽  
pp. 25-27 ◽  
Author(s):  
Silvia Bragagnolo Longhitano ◽  
Décio Brunoni
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Dominant Inheritance ◽  
Genetic Etiology ◽  
Parental Consanguinity ◽  
Genetic Hearing Loss ◽  
Associated Abnormalities

We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case. Deafness with no associated abnormalities was found in 146 patients (64%) belonging to 112 families. Syndromic deafness was diagnosed in 82 patients (36%) belonging to 76 families. The genetic etiology was as follows: autosomal recessive inheritance in 40.8% of syndromics and non-syndromics, autosomal dominant inheritance in 13.2% and X-linked recessive in 1.3%. In 44.7% of the cases, the etiology of the hearing loss could not be determined. Monogenic causes are the most possible etiology in the latter cases. Parental consanguinity was found in 22.4% of the cases, and deafness was bilateral, profound and neurosensorial in 47.4% of the patients. An early onset of hearing loss (< 2 years of age) occurred in 46.5% of the cases. These results are similar to previous literature reports.

Hereditary hearing loss and its syndromes

1996 ◽  
Vol 17 (1) ◽  
pp. 78
Author(s):  
Hayes H. Wanamaker
Keyword(s):  
Hearing Loss ◽  
Hereditary Hearing Loss

Hereditary Hearing Loss with Thyroid Abnormalities

2011 ◽  
pp. 43-49 ◽  
Author(s):  
Byung Yoon Choi ◽  
Julie Muskett ◽  
Kelly A. King ◽  
Christopher K. Zalewski ◽  
Thomas Shawker ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Hereditary Hearing Loss ◽  
Thyroid Abnormalities
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