A functional genetic link between distinct developmental language disorders
Open accessAbstract
BACKGROUND: Rare mutations affecting the FOXP2 transcription factor cause a monogenic speech and language disorder. We hypothesized that neural pathways downstream of FOXP2 influence more common phenotypes, such as specific language impairment. METHODS: We performed genomic screening for regions bound by FOXP2 using chromatin immunoprecipitation, which led us to focus on one particular gene that was a strong candidate for involvement in language impairments. We then tested for associations between single-nucleotide polymorphisms (SNPs) in this gene and language deficits in a well-characterized set of 184 families affected with specific language impairment. RESULTS: We found that FOXP2 binds to and dramatically down-regulates CNTNAP2, a gene that encodes a neurexin and is expressed in the developing human cortex. On analyzing CNTNAP2 polymorphisms in children with typical specific language impairment, we detected significant quantitative associations with nonsense-word repetition, a heritable behavioral marker of this disorder (peak association, P=5.0x10(-5) at SNP rs17236239). Intriguingly, this region coincides with one associated with language delays in children with autism. CONCLUSIONS: The FOXP2-CNTNAP2 pathway provides a mechanistic link between clinically distinct syndromes involving disrupted language.
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The same allele that increases risk for language delay in ASD increases risk for specific language impairment and modifies language ability in the general population.
“Several groups have demonstrated that this is indeed the case with respect to CNTNAP2 [60, 61, 63], as the same allele that increases risk for language delay in ASD, increases risk for specific language impairment (SLI) and modifies language ability in the general population.”
From Genetics of autism spectrum disorders (2011) · cites this paper as [61]
Two common polymorphisms in a relatively circumscribed area of CNTNAP2 modulate language function in ASD and other conditions.
“Two common polymorphisms in a relatively circumscribed area of CNTNAP2 have been shown to modulate language function in ASD and other conditions [59–61].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [61]
Common variants in CNTNAP2 have also been associated with ASD and specific-language impairment.
“Common variants in CNTNAP2 have also been associated with ASD (49–51) and specific-language impairment (52).”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [52]
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Self-citation
- Authors
- Vernes, S. C., Newbury, D. F., Abrahams, B. S., Winchester, L., Nicod, J., Groszer, M., Alarcón, M., Oliver, P. L., Davies, K. E., Geschwind, D. H., Monaco, A. P., & Fisher, S. E.
- Affiliations
- Centre for Human Genetics (GB)
- University of California, Los Angeles (US)
- University of Oxford (GB)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2008-11-27
- Volume
- 359
- Issue
- 22
- Pages
- 2337-2345
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC2756409
- OpenAlex
- W2152704739
- Cited by
- 676
- References
- 51
- Citations by year
- 2026: 11 · 2025: 11 · 2024: 18 · 2023: 22 · 2022: 9 · 2021: 25 · 2020: 21 · 2019: 25 · 2018: 36 · 2017: 34 · 2016: 36 · 2015: 40 · 2014: 56 · 2013: 59 · 2012: 80
- FWCI
- 111.85
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Max Planck Digital Library (submittedVersion, other-oa)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- Funders
- Autism Speaks (AS1309)
- Wellcome Trust (080971)
- National Institute of Mental Health (MH75028-R21, R21MH075028, R01MH060233, MH081754-R01, R01MH081754, MH60233-R37, R56MH060233, R37MH060233)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD055784-P50, P50HD055784)
- Topics
- Social Sciences › Psychology › Developmental and Educational Psychology › Language Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Social Sciences › Psychology › Developmental and Educational Psychology › Reading and Literacy Development
- Keywords
- FOXP2, CNTNAP2, neurexin, specific language impairment, transcriptional regulation, single nucleotide polymorphisms, genetic linkage, chromatin immunoprecipitation, speech and language disorders
- MeSH terms
- Child, Female, Gene Expression Regulation, Genetic Markers, Haplotypes, Humans, Language Development Disorders, Male, Membrane Proteins, Nerve Tissue Proteins, Phenotype, Down-Regulation, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Chromatin Immunoprecipitation, Forkhead Transcription Factors, Genome-Wide Association Study
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