Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Nov 24;17(1):103.
doi: 10.1186/s40246-023-00556-7.

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

LéShon Peart  1 , Joanna Gonzalez  1 , Dayna Morel Swols  1 , Duygu Duman  1   2 , Turcin Saridogan  1 , Memoona Ramzan  3 , Mohammad Faraz Zafeer  3 , Xue Zhong Liu  1   3   4 , Adrien A Eshraghi  4 , Michael E Hoffer  4 , Simon I Angeli  4 , Guney Bademci  1 , Susan Blanton  1   3   4 , Carson Smith  1 , Fred F Telischi  4 , Mustafa Tekin  5   6   7
Affiliations

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

LéShon Peart et al. Hum Genomics. .

Abstract

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.

Keywords: Gene variants; Genetic; Minority; Multicultural; Racial and ethnic; Sensorineural hearing loss.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Causal Gene Distribution According to Racial and Ethnic Groups. A Exhibits the gene distribution in the solved White Non-Hispanic population. B Exhibits the gene distribution in the solved White Hispanic population. C Exhibits the gene distribution in the solved Non-Hispanic Black/African American population
Fig. 2
Fig. 2
Solve Rate Analysis of Hearing Loss in a Multicultural Population. Solve Rate Analysis of ethnicity, race, phenotype, and family history of the Total, Non-Hispanic and Hispanic cohort. (The percentages are representative of the solve rate. i.e. Asian cohort has a 17% SR, of these if late onset HL the SR increases to 50%, when mild to moderate severity HL also present the SR remains at 50%, when bilateral HL also present the SR also remains at 50%, when the case is also syndromic the SR increases to 100% and remains at a 100% SR if no family history)
See this image and copyright information in PMC

References

    1. GBD 2019 Hearing Loss Collaborators Hearing loss prevalence and years lived with disability, 1990–2019: findings from the Global Burden of Disease Study 2019. Lancet. 2021;397(10278):996–1009. doi: 10.1016/S0140-6736(21)00516-X. - DOI - PMC - PubMed
    1. World Health Organization. World report on hearing. 2021; Accessed from [https://apps.who.int/iris/handle/10665/339913. License: CC BY-NC-SA 3.0 IGO]
    1. Fortnum HM, Summerfield AQ, Marshall DH, Davis AC, Bamford JM. Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. BMJ. 2001;323(7312):536–540. doi: 10.1136/bmj.323.7312.536. - DOI - PMC - PubMed
    1. Morton CC, Nance WE. Newborn hearing screening–a silent revolution. N Engl J Med. 2006;354(20):2151–2164. doi: 10.1056/NEJMra050700. - DOI - PubMed
    1. Thorpe RK, Smith RJH. Future directions for screening and treatment in congenital hearing loss. Precis Clin Med. 2020;3(3):175–186. doi: 10.1093/pcmedi/pbaa025. - DOI - PMC - PubMed

Publication types

MeSH terms

LinkOut - more resources