# Defining the Language Phenotype of the FMR1 Premutation

> **NIH NIH R21** · UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA · 2020 · $146,500

## Abstract

PROJECT SUMMARY/ABSTRACT
 Although the FMR1 premutation is a common genetic abnormality that affects 1:151 women in the US,
relatively little is known about its clinical phenotype. A growing number of studies indicate that mothers who are
carriers of the FMR1 premutation struggle with pragmatic aspects of language. However, it is unclear whether
other aspects of oral or written language are also impaired in premutation carrier mothers, as there have been no
systematic investigations of language in this population. Understanding the full range of language difficulties
experienced by premutation carrier mothers is important because even subtle language and literacy problems
are linked with negative outcomes such as lower educational attainment, unemployment, poorer quality
friendships, and psychiatric risk. These negative outcomes are particularly concerning when applied within the
context of fragile X families because they may impact the ability of the premutation carrier mother to care and
advocate for her disabled children with fragile X syndrome, thereby impacting quality of life for both the mother
as well as her family.
 This proposal represents the first systematic investigation of language abilities in premutation carrier
mothers. We seek to identify aspects of oral and written language that differentiate premutation carrier mothers
from control mothers and mothers of children with autism spectrum disorder (ASD). Our inclusion of a control
group of neurotypical mothers will allow us to identify aspects of the premutation language profile that are
impaired relative to the healthy population. We also include comparison to mothers of children with ASD, who are
at increased genetic liability to ASD and show subtle language difficulties associated with the broad autism
phenotype. This cross-population comparison approach will inform phenotypic specificity and the range of
language features that may be traced specifically to the biochemical effects of FMR1. We will also investigate
the interplay between language and executive dysfunction, which is a well-documented aspect of the premutation
phenotype and is hypothesized to influence language. Finally, we will examine association between language
and FMR1 gene function. This research will refine our understanding of the full range of language phenotypes
linked with FMR1 gene dysfunction and will inform the development of identification/treatment efforts targeted
towards the specific needs of premutation carrier mothers and their families.

## Key facts

- **NIH application ID:** 9891045
- **Project number:** 5R21DC017804-02
- **Recipient organization:** UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA
- **Principal Investigator:** Jessica Klusek
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $146,500
- **Award type:** 5
- **Project period:** 2019-04-01 → 2022-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9891045

## Citation

> US National Institutes of Health, RePORTER application 9891045, Defining the Language Phenotype of the FMR1 Premutation (5R21DC017804-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9891045. Licensed CC0.

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