# Localization of Nonsyndromic Hearing Impairment Genes

> **NIH NIH R01** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2020 · $307,162

## Abstract

PROJECT SUMMARY
Hearing impairment (HI) is the most common sensory deficit in the world. Congenital HI occurs in 1-2 per
1000 newborns. Understanding the mechanism of hearing will greatly aid in the development of treatment
strategies for HI. Additionally identification of pathogenic variants involved in HI is highly beneficial for
genetic screening so that HI can be diagnosed early and intervention can occur at a young age to maximize
the child's cognitive, social-emotional, speech and language development. The first step is to map and
identify genes involved in the etiology of nonsyndromic (NS) HI. Although ~160 loci for NSHI have been
mapped and 90 genes identified, the vast majority of NSHI genes have neither been localized nor identified.
The extreme genetic heterogeneity of NSHI is due to the different processes, which can malfunction within
the inner ear and cause the HI phenotype. Identification of genes involved in HI is the first step in improving
knowledge of the auditory process, which in turn will aid in the development of diagnostic modalities and
therapeutic interventions. In order to identify new NSHI genes pedigrees segregating NSHI are being
ascertained from Pakistan and Hungary (Roma). The Pakistani pedigrees are usually consanguineous and
large. Before gene identification the NSHI gene segregating in a family must be mapped to a genomic
region using genotyping and linkage analysis. Therefore, DNA samples from the ascertained pedigrees will
undergo whole genome genotyping using the Illumina Infinium HumanCore BeadChip which includes
~282,000 marker loci. Using the generated genotypes linkage and haplotype analysis, and for
consanguineous ARNSHI families homozygosity mapping, will be performed to localize NSHI loci to the
smallest possible genetic intervals. Multiple families with linkage to the same genetic region will be highly
beneficial since these families are likely to have variants within the same gene and will demonstrate that an
identified gene is likely to be involved in the etiology of NSHI. The study will provide a rich resource of
families to carry out NSHI gene identification using exome and whole genome next-generation sequencing.

## Key facts

- **NIH application ID:** 9999952
- **Project number:** 5R01DC011651-11
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** SUZANNE M LEAL
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $307,162
- **Award type:** 5
- **Project period:** 2011-04-01 → 2022-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9999952

## Citation

> US National Institutes of Health, RePORTER application 9999952, Localization of Nonsyndromic Hearing Impairment Genes (5R01DC011651-11). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/9999952. Licensed CC0.

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