# A Collaborative Search for New Genes for Non-Syndromic Deafness

> **NIH NIH R01** · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · 2023 · $652,249

## Abstract

Program Director/Principal Investigator (Last, First, Middle):
Project Summary
Clinically significant hearing loss is present in at least 1.9 per 1,000 infants at birth and affects nearly half of the
population at some time in their lives. Nearly 70% of congenital or prelingual deafness is genetic in origin, and
of these up to 93% are monogenic autosomal recessive traits. Some forms of genetic deafness can be
recognized by their associated syndromic features, but in most cases, hearing loss is the only finding (NSHL).
DNA variants in currently recognized deafness genes are not detected in more than one-third of affected
individuals with autosomal recessive NSHL, leaving large number of families without a molecular diagnosis.
We established a repository that contains biological samples and clinical data on about three thousand families
with NSHL. Of these, over a thousand include at least two affected members and are consistent with
autosomal recessive NSHL. The most common forms of NSHL have been excluded in all families; all known
deafness genes were excluded in over four hundred families. We will use genome sequencing to identify
underlying coding and non-coding variants in families with autosomal recessive NSHL that remain unsolved in
our Repository. Availability of a large number of inbred families will facilitate analysis within autozygous
regions. To support the role of identified variants in pathophysiology, we will perform functional experiments
utilizing in vitro and mouse models. We have successfully applied this strategy to discover novel deafness
genes during the previous cycles of this application. Detected variants and associated audio-vestibular
phenotypes will be stored in a database that will be accessible by outside researchers. The outcomes of this
proposal will be discoveries of novel coding and non-coding variants in genes and pathways involved in the
pathophysiology of deafness, foundation of molecular diagnostic tests for etiological diagnosis, counseling, and
candidacy for molecular treatments of affected individuals.
OMB No. 0925-0001/0002 (Rev. 08/12 Approved Through 8/31/2015) Page Continuation Format Page

## Key facts

- **NIH application ID:** 10633086
- **Project number:** 5R01DC009645-13
- **Recipient organization:** UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
- **Principal Investigator:** MUSTAFA TEKIN
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $652,249
- **Award type:** 5
- **Project period:** 2010-06-01 → 2026-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10633086

## Citation

> US National Institutes of Health, RePORTER application 10633086, A Collaborative Search for New Genes for Non-Syndromic Deafness (5R01DC009645-13). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10633086. Licensed CC0.

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