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Dispersed DNA variants underlie hearing loss in South Florida’s minority population
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Dispersed DNA variants underlie hearing loss in South Florida’s minority population
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Journal Article
Dispersed DNA variants underlie hearing loss in South Florida’s minority population
2023
Overview
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.
Publisher
BioMed Central,Springer Nature B.V,BMC
Subject
/ Biomedical and Life Sciences
/ Black or African American - genetics
/ Deafness
/ Genes
/ Genetic
/ Hearing Loss, Sensorineural - epidemiology
/ Hearing Loss, Sensorineural - genetics
/ Hispanic or Latino - genetics
/ Humans
/ Intercellular Signaling Peptides and Proteins
/ Minority
/ Mutation
/ Race
