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. 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. 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.

中文翻译：

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分散的 DNA 变异是南佛罗里达少数族裔听力损失的根源

我们通过回顾 136 名在迈阿密大学遗传性听力损失诊所就诊的患者的人口统计、表型和遗传数据，分析了南佛罗里达州少数族裔感音神经性听力损失的遗传原因。在我们的回顾性图表审查中，这些患者中有一半自认为是西班牙裔，自认为种族分布为 115 名（86%）白人、15 名（11%）黑人和 6 名（4%）亚裔。我们的分析有助于缩小不同人群中与听力损失相关的患病率、影响和遗传因素的理解差距。在 54 名 (40%) 患者中发现了致病基因变异，西班牙裔和非西班牙裔之间的分子诊断率没有显着差异。然而，基于种族的总解决率在白人、黑人和亚洲人中分别为 40%、47% 和 17%。在非西班牙裔白人中，在 13 个基因中发现了 16 种不同的变异，其中 GJB2 (32%)、MYO7A (11%) 和 SLC26A4 (11%) 是最常见的相关基因。在西班牙裔白人中，在 20 个基因中发现了 34 个变异，其中最常见的是 GJB2 (22%)、MYO7A (7%) 和 STRC-CATSPER2 (7%)。在非西班牙裔黑人队列中，基因分布均匀，7个基因中出现11个变异，3名西班牙裔黑人先证者未发现变异。在亚洲队列中，6 名患者中仅发现了一种基因变异。这项研究表明，南佛罗里达州听力损失基因研究的诊断率因种族而异，种族和少数族裔的异质性更大。非常需要进一步研究来描述代表性不足的人群（例如来自西班牙裔群体的非裔美国人/黑人）的耳聋基因变异，以减少基因诊断中的种族和民族差异。