Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
Open accessAbstract
Intellectual disability (ID) affects up to 2% of the population world-wide and often coincides with other neurological conditions such as autism spectrum disorders. Mutations in KDM5C cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most common causes of X-linked ID. KDM5C encodes a histone demethylase for di- and tri-methylated histone H3 lysine 4 (H3K4me2/3), chromatin marks which are enriched in transcriptionally-engaged promoter regions. KDM5C regulates gene transcription; however, it remains unknown whether removal of H3K4me is fully responsible for KDM5C-mediated gene regulation. Most mutations functionally tested to date result in reduced enzymatic activity of KDM5C, indicating loss of demethylase function as the primary mechanism underlying MRXSCJ. Here, we report a novel KDM5C mutation, R1115H, identified in individual displaying MRXSCJ-like symptoms. The carrier mother displayed a highly skewed X-inactivation pattern. The KDM5C-R1115H substitution does not have an impact on enzymatic activity nor protein stability. However, when overexpressed in post-mitotic neurons, KDM5C-R1115H failed to fully suppress expression of target genes, while the mutant also affected expression of a distinct set of genes compared to KDM5C-wildtype. These results suggest that KDM5C may have non-enzymatic roles in gene regulation, and alteration of these roles contributes to MRXSCJ in this patient.
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LD_0587 has a clinical presentation with intellectual disability, epilepsy, aggressive behavior, and macrocephaly, all consistent features of KDM5C-related disorder, and is classified as clinically resolved but the identified variant lacks definitive proof to be classified as likely pathogenic or pathogenic.
“LD_0587 has a clinical presentation with intellectual disability, epilepsy, aggressive behavior, and macrocephaly, all consistent features of KDM5C‐related disorder and is classified as clinically resolved but the identified variant lacks definitive proof to be classified as likely pathogenic or pathogenic.17”
From Genome sequencing in persistently unsolved white matter disorders (2020) · cites this paper as [17]
Split into 2 atoms — 0 confirmed, 2 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredAffected individuals in families LD_0579 and LD_0587 had variants in genes previously implicated in neurologic syndromes where improvements to the analysis pipeline or improved phenotypic understanding permitted a diagnosis or prioritized a high confidence candidate, in L1CAM and KDM5C, respectively.
“Affected individuals in families LD_0579 and LD_0587 had variants in genes previously implicated in neurologic syndromes where improvements to our analysis pipeline or improved phenotypic understand permitted a diagnosis or prioritized a high confidence candidate, in L1CAM (OMIM:308840)16 and KDM5C (OMIM:314690),17 respectively.”
From Genome sequencing in persistently unsolved white matter disorders (2020) · cites this paper as [17]
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- Authors
- Vallianatos, C. N., Farrehi, C., Friez, M. J., Burmeister, M., Keegan, C. E., & Iwase, S.
- Affiliations
- University of Michigan (US)
- Greenwood Genetic Center (US)
- Corresponding author
- Iwase, Shigeki
- Venue
- Frontiers in Molecular Neuroscience
- Publisher
- Frontiers Media SA
- Published
- 2018-04-04
- Volume
- 11
- Pages
- 104-104
- ISSN
- 1662-5099 (ISSN-L)
- PMC
- PMC5893713
- OpenAlex
- W2795717412
- Cited by
- 71
- References
- 40
- Citations by year
- 2026: 7 · 2025: 6 · 2024: 11 · 2023: 7 · 2022: 10 · 2021: 12 · 2020: 10 · 2019: 6 · 2018: 2
- FWCI
- 4.59
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Frontiers in Molecular Neuroscience (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- International Journal of Nanomedicine
- Funders
- National Institute of General Medical Sciences (T32-GM07544)
- National Institute of Child Health and Human Development (T32-HD079342)
- National Institute of Neurological Disorders and Stroke (R01NS089896)
- Autism Science Foundation
- Michigan Institute for Clinical and Health Research (UL1TR000433, UL1TR002240)
- Horace H. Rackham School of Graduate Studies, University of Michigan
- March of Dimes Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- KDM5C, X-linked intellectual disability, autism spectrum disorder, H3K4 demethylase, X-inactivation skewing, postmitotic neurons, H3K4, transcriptional regulation
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