Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America-Reference-Cited by-同舟云学术

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America

Published:2024-01-29 Issue:2 Volume:15 Page:178
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

De Rosa Maria Agustina¹,Bernardi Maria T.¹,Kleppe Soledad²,Walz Katherina¹³⁴

Affiliation:

1. Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires C1428EHA, Argentina

2. Department of Clinical Pediatrics, Hospital Italiano de Buenos Aires, Instituto Universitario Hospital Italiano de Buenos Aires, Buenos Aires C1199ABB, Argentina

3. John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA

4. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-418 (M-860), Miami, FL 33136, USA

Abstract

Congenital hearing loss is the most common birth defect, estimated to affect 2–3 in every 1000 births, with ~50–60% of those related to genetic causes. Technological advances enabled the identification of hundreds of genes related to hearing loss (HL), with important implications for patients, their families, and the community. Despite these advances, in Latin America, the population with hearing loss remains underdiagnosed, with most studies focusing on a single locus encompassing the GJB2/GJB6 genes. Here we discuss how current and emerging genetic knowledge has the potential to alter the approach to diagnosis and management of hearing loss, which is the current situation in Latin America, and the barriers that still need to be overcome.

Funder

ANPCyT Argentina PICT-2021

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Link

https://www.mdpi.com/2073-4425/15/2/178/pdf

Reference111 articles.

1. Newborn hearing screening—A silent revolution;Morton;N. Engl. J. Med.,2006

2. (2023, December 10). Deafness and Hearing Loss|World Health Organization. Available online: https://www.who.int/health-topics/hearing-loss#.

3. GBD 2017 Disease and Injury Incidence and Prevalence Collaborators (2018). Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195 countries and territories, 1990–2017: A systematic analysis for the Global Burden of Disease Study 2017. Lancet, 392, 1789–1858.

4. (2023, December 20). Report of the Informal Working Group on Prevention of Deafness and Hearing Impairment Programme Planning|World Health Organization. Available online: http://www.who.int/iris/handle/10665/58839.

5. The Differential Diagnosis of Hearing Loss;Zahner;Dtsch. Arztebl. Int.,2011