Evidence map›Paper›PMID 37996878›Full record

ArticleHuman genomics2023

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

LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A Eshraghi, Michael E Hoffer and 6 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.4field-weighted citation impact, top 20% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. IsMedComm · 2025
    Article
  3. Article
  4. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 2 institutions in 2 countries.

LéShon PeartDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Joanna GonzalezDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Dayna Morel SwolsDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Duygu DumanDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Turcin SaridoganDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Memoona RamzanHussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Mohammad Faraz ZafeerHussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Xue Zhong LiuDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Adrien A EshraghiDepartment of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL, USA.
Michael E HofferDepartment of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL, USA.
Simon I AngeliDepartment of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL, USA.
Guney BademciDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Susan BlantonDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Carson SmithDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Fred F TelischiDepartment of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL, USA.
Mustafa TekinDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA. MTekin@med.miami.edu.
University of Miami · USDr. John T. Macdonald Foundation · US

Funding

A Collaborative Search for New Genes for Non-Syndromic DeafnessR01DC009645 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MUSTAFA TEKIN · 2010 to 2026
$11.8M
Molecular Genetics on Non Syndromic Hearing Loss (NSHL)R01DC005575 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2001 to 2024
$10.6M
Sensory disorders in COVID -19 as an early identifier and healthcare worker protectionR01DC012115 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2013 to 2022
$7.2M
Development of CRISPR/Cas9-based exon-skipping strategies for the treatment of USH-associated deafnessR01DC019404 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SUSAN HALLORAN BLANTON, Zheng-Yi Chen · 2022 to 2026
$2.8M
NIDCD NIH HHS R01 DC005575NIDCD NIH HHS R01 DC009645NIDCD NIH HHS R01 DC012115NIDCD NIH HHS R01 DC019404NIH HHS NIDCD R01 DC019404NIH HHS R01DC005575NIH HHS R01DC009645NIH HHS R01DC012115
6 · The paper itself

Abstract

backgroundWe 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.

resultsThe 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.

conclusionThis 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.

Indexed as

Hearing Loss, SensorineuralAsianBlack or African AmericanCalcium ChannelsConnexin 26DNAFloridaHispanic or LatinoHumansIntercellular Signaling Peptides and ProteinsMyosin VIIaRetrospective StudiesSeminal Plasma ProteinsSulfate TransportersWhiteCalcium ChannelsCATSPER2 protein, humanConnexin 26DNAGJB2 protein, humanIntercellular Signaling Peptides and ProteinsMYO7A protein, humanMyosin VIIaSeminal Plasma ProteinsSLC26A4 protein, humanSTRC protein, humanSulfate TransportersGeneticGene variantsMinorityMulticulturalRacial and ethnicSensorineural hearing loss

Identifiers

PMID37996878
PMCPMC10668374
OpenAlexW4388960838

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.