# Genetic studies of specific language impairment (SLI) using consanguineousfamilies

> **NIH NIH R21** · UNIVERSITY OF KANSAS LAWRENCE · 2021 · $146,598

## Abstract

Project Summary/Abstract
Specific language impairment (SLI) affects up to 7% of individuals in the United States. SLI affects communica-
tion, learning, and social abilities, and requires additional attention in school. The causes of SLI are not known.
However, twin studies and family studies clearly demonstrate that there are genetic components involved in
the transmission of this disorder. There have been several linkage studies of small, outbred SLI families, but to
date these studies have had limited success identifying causative genes for this disorder. Very few attempts
were made to report SLI loci in extended families with independent replication. There is a need for further focus
on a family-based approach, specifically using consanguineous families, to detect SLI loci that can allow us to
identify causative genes. The long-term objectives of the proposed study are to identify genes responsible for
SLI by studying consanguineous families ascertained from Pakistan. Recently, a similar approach was used,
which identified the first gene responsible for stuttering, another phenotypically and genetically complex disor-
der. We initially performed genetic analysis in 14 consanguineous SLI families in Pakistan. Our preliminary
linkage mapping in SLI families suggested SLI loci, which is a proof of principle, but it also demonstrated the
need to extend gene-mapping and phenotyping in additional SLI families from Pakistan. We propose three
specific aims to achieve. Age appropriate means and standard deviations will be calculated in Pakistani sam-
ples for multiple language assessments (Aim#1). Genome-wide gene mapping will be performed in well char-
acterized multigenerational consanguineous SLI families (Aim#2). The frequency of common homozygosity
regions will be estimated in Pakistani samples (Aim#3).

## Key facts

- **NIH application ID:** 10139014
- **Project number:** 5R21DC017830-02
- **Recipient organization:** UNIVERSITY OF KANSAS LAWRENCE
- **Principal Investigator:** Muhammad Hashim Raza
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $146,598
- **Award type:** 5
- **Project period:** 2020-04-10 → 2023-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10139014

## Citation

> US National Institutes of Health, RePORTER application 10139014, Genetic studies of specific language impairment (SLI) using consanguineousfamilies (5R21DC017830-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10139014. Licensed CC0.

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