Genetics and Acquired Hearing Loss

Alkowari, Moza Khalifa; Guarch, Meritxell Espino

doi:10.5772/intechopen.86664

Geriatric Medicine and Gerontology 2019

DOI: 10.5772/intechopen.86664

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Genetics and Acquired Hearing Loss

Moza Khalifa Alkowari¹,

Meritxell Espino Guarch²

Abstract: Hearing loss (HL) is a worldwide disease with substantial economic costs for the public health. Around 466 million people have disabling hearing loss and the WHO estimated that by 2050 over 900 million people will suffer hearing loss. Several factors including infections, noise-exposure, ototoxic medications or genetic disorders could cause hearing impairment. Hearing devices such as cochlear implants and aids are the current therapies. Although the prevalence of hearing loss is very high, alternative treatmen… Show more

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Cited by 2 publications

References 128 publications

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Dispersed DNA variants underlie hearing loss in South Florida’s minority population

Peart,

Gonzalez,

Morel Swols

et al. 2023

Hum Genomics

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Background We analyzed the genetic causes of sensorineural hearing loss in racial and ethnic minorities of South Florida by reviewing demographic, phenotypic, and genetic data on 136 patients presenting to the Hereditary Hearing Loss Clinic at the University of Miami. In our retrospective chart review, of these patients, half self-identified as Hispanic, and the self-identified racial distribution was 115 (86%) White, 15 (11%) Black, and 6 (4%) Asian. Our analysis helps to reduce the gap in understanding the prevalence, impact, and genetic factors related to hearing loss among diverse populations. Results The causative gene variant or variants were identified in 54 (40%) patients, with no significant difference in the molecular diagnostic rate between Hispanics and Non-Hispanics. However, the total solve rate based on race was 40%, 47%, and 17% in Whites, Blacks, and Asians, respectively. In Non-Hispanic Whites, 16 different variants were identified in 13 genes, with GJB2 (32%), MYO7A (11%), and SLC26A4 (11%) being the most frequently implicated genes. In White Hispanics, 34 variants were identified in 20 genes, with GJB2 (22%), MYO7A (7%), and STRC-CATSPER2 (7%) being the most common. In the Non-Hispanic Black cohort, the gene distribution was evenly dispersed, with 11 variants occurring in 7 genes, and no variant was identified in 3 Hispanic Black probands. For the Asian cohort, only one gene variant was found out of 6 patients. Conclusion This study demonstrates that the diagnostic rate of genetic studies in hearing loss varies according to race in South Florida, with more heterogeneity in racial and ethnic minorities. Further studies to delineate deafness gene variants in underrepresented populations, such as African Americans/Blacks from Hispanic groups, are much needed to reduce racial and ethnic disparities in genetic diagnoses.

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Dispersed DNA variants underlie hearing loss in South Florida’s minority population

Peart,

Gonzalez,

Morel Swols

et al. 2023

Hum Genomics

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Natural Deaf Education for the Community

Nugroho

Agustinus

William

et al. 2022

JLM

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Congenital deafness will impact the quality of life of affected individuals if they do not obtain early detection and intervention. Socialization of congenital deafness is needed, thereby the community can engage in early detection and intervention efforts. Socializing about the early detection and intervention of congenital deafness. Educational activities are carried out with counseling using the lecture method, discussion, and pretest and posttest. The average pretest result was 62.03 (± 11.51) and the posttest average was 88.39 (± 13.41). Based on the comparison between the pretest and posttest results, we found a significant difference (p < 0.0001) statistically. Public knowledge of congenital deafness needs to be improved in order to increase community participation in terms of early detection and intervention.

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Genetics and Acquired Hearing Loss

Cited by 2 publications

References 128 publications

Dispersed DNA variants underlie hearing loss in South Florida’s minority population

Dispersed DNA variants underlie hearing loss in South Florida’s minority population

Natural Deaf Education for the Community

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