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. 2025 Jun 18;19(1):68.
doi: 10.1186/s40246-025-00775-0.

Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida

Zachary J Cromar  1 , Ryan Chen  1 , Tamara Juvier Riesgo  2 , Denise Yan  3 , Lindsay Dawn Verma  3 , Zhengyi Chen  4 , Susan H Blanton  1   3   5 , Byron L Lam  2 , Xue Zhong Liu  6   7   8
Affiliations

Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida

Zachary J Cromar et al. Hum Genomics. .

Abstract

Background: Usher syndrome (USH) is the leading genetic cause of congenital deaf blindness worldwide. USH is an autosomal recessive disorder clinically characterized by partial or complete congenital sensorineural hearing loss followed by progressive vision loss due to retinitis pigmentosa. There are three main subtypes (USH1, USH2, USH3) with different genetic causes categorized by age of symptom onset and severity. Understanding the genetic epidemiology of USH can help identify novel mutations and facilitate definitive diagnosis and treatment. This retrospective study characterizes the mutation spectrum of USH in an ethnically diverse South Florida population.

Results: Of the 148 patients assessed for this study, 67 were male and 81 were female. In this population, one identified as American Indian or Alaska Native, 6 identified as Asian (A), eight identified as Black or African American (AA), eight identified as More than One Race, 26 were identified as Unknown or Not Reported, and 99 were identified as white. In addition, 42 identified as Hispanic or Latino, 87 identified as Non-Hispanic or Latino, and 19 were identified as Unknown or Not Reported; all individuals identifying as Hispanic or Latino were either White or Unknown. One American Indian or Alaska Native patient, two Asian patients, two Black or African American Patients, and 15 white patients had inconclusive molecular testing results. In our population, White Non-Hispanics were more likely to receive a conclusive molecular diagnosis for their hearing loss.

Conclusions: This is the first genetic characterization of an ethnically diverse South Florida population with USH, which can help direct patient diagnosis and medical care. As clinical trials for treatment increases, molecular testing in all individuals is imperative.

Keywords: Blindness; Deafness; Minorities; Retinitis pigmentosa; Usher syndrome.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: This study was performed following the guidelines of the Declaration of Helsinki and was completed under University of Miami Institutional Review Board #20010415 as part of a chart review. Individual Consent Form: N/A. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Distribution of variant genes by race/ethnicity. The frequency of genes containing a variant by race-ethnicity categories are demonstrated. USH2A, in green, is the most common affected gene and is found in each of the race-ethnicity groups. Variants in WHRN, CLRN1, CDH23, USH1C, MYO7A, and ADGRV1, were also identified
Fig. 2
Fig. 2
Distribution of variant alleles by gene. The frequency of each variant by gene is shown. Variant c.2299delG in USH2A is the most common variant, followed by c.12575G > A in USH2A
Fig. 3
Fig. 3
Frequency of allele variant’s molecular consequences in patient population. Molecular consequence frequencies are shown, with variants causing a missense being the most common, followed by variants causing a frameshift
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References

    1. Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36(8):595–603. - PubMed
    1. Koenekoop RK, Arriaga MA, Trzupek KM, Lentz JJ, Usher Syndrome Type I et al. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Gripp KW, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993 [cited 2022 Jan 26]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1265/
    1. Mayro EL, Murchison AP, Hark LA, Silverstein M, Wang OY, Gilligan JP, et al. Prevalence of depressive symptoms and associated factors in an urban, ophthalmic population. Eur J Ophthalmol. 2021;31(2):740–7. - PubMed
    1. Newsome DA, Stark WJ, Maumenee IH. Cataract extraction and intraocular lens implantation in patients with retinitis pigmentosa or Usher’s syndrome. Arch Ophthalmol Chic Ill 1960. 1986;104(6):852–4. - PubMed
    1. NAC Attack Clinical Trial. [cited 2025 Mar 30]. Available from: https://www.hopkinsmedicine.org/wilmer/research/nac-attack