Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis
Open accessAbstract
Little is known about genes that underlie isolated single‐suture craniosynostosis. In this study, we hypothesize that rare copy number variants (CNV) in patients with isolated single‐suture craniosynostosis contain genes important for cranial development. Using whole genome array comparative genomic hybridization (CGH), we evaluated DNA from 186 individuals with single‐suture craniosynostosis for submicroscopic deletions and duplications. We identified a 1.1 Mb duplication encompassing RUNX2 in two affected cousins with metopic synostosis and hypodontia. Given that RUNX2 is required as a master switch for osteoblast differentiation and interacts with TWIST1, mutations in which also cause craniosynostosis, we conclude that the duplication in this family is pathogenic, albeit with reduced penetrance. In addition, we find that a total of 7.5% of individuals with single‐suture synostosis in our series have at least one rare deletion or duplication that contains genes and that has not been previously reported in unaffected individuals. The genes within and disrupted by CNVs in this cohort are potential novel candidate genes for craniosynostosis. © 2010 Wiley‐Liss, Inc.
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Altered gene dosage and disrupted regulation can contribute to sCS even in the absence of pathogenic coding variants.
“Tandem duplications of upstream IHH enhancers, rare chromosomal microdeletions and microduplications, and CNVs involving regions that include genes such as FGF2, SPRY1, SEMA5A, FBLN2, and TMEM43 support the concept that altered gene dosage and disrupted regulation can contribute to sCS even in the absence of pathogenic coding variants [64, 85, 87, 115, 124].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [87]
The Discussion (page not provided) proposes that changes in gene dosage, including RUNX2 duplication, increase susceptibility to premature suture fusion. The Results table also identifies rare CNVs involving SEMA5A, FBLN2, and TMEM43 in people with single-suture craniosynostosis. The paper does not establish disrupted regulation or show that the affected individuals lacked pathogenic coding variants. (LLM, conf=0.86)
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Self-citationCraniosynostosis: The Potential Contribution of Thyroid-Related Mechanisms
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- Authors
- Mefford, H. C., Shafer, N., Antonacci, F., Tsai, J. M., Park, S. S., Hing, A. V., Rieder, M. J., Smyth, M. D., Speltz, M. L., Eichler, E. E., & Cunningham, M. L.
- Affiliations
- University of Washington (US)
- Seattle Children's Hospital (US)
- St. Louis Children's Hospital (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Mefford, Heather C.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2010-08-03
- Volume
- 152A
- Issue
- 9
- Pages
- 2203-2210
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC3104131
- OpenAlex
- W1968034624
- Cited by
- 78
- References
- 31
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 2 · 2023: 1 · 2022: 2 · 2021: 2 · 2020: 3 · 2019: 5 · 2018: 9 · 2017: 4 · 2016: 9 · 2015: 4 · 2014: 6 · 2013: 12 · 2012: 10
- FWCI
- 4.49
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Burroughs Wellcome Fund
- University of Washington
- Seattle Children's Research Institute
- Children’s Hospital of Wisconsin Research Institute
- National Institutes of Health (/ NIDCR R01)
- National Institute of Dental and Craniofacial Research (R01DE018227, R01DE013813)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD043376, HD043569, K12HD043376, R01HD043569)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Keywords
- single-suture craniosynostosis, metopic craniosynostosis, copy number variation, tooth agenesis, TWIST1, skull development, incomplete penetrance, novel candidate genes, submicroscopic deletions
- MeSH terms
- Craniosynostoses, Family, Humans, Prospective Studies, Genetic Variation, In Situ Hybridization, Fluorescence, Gene Dosage, Core Binding Factor Alpha 1 Subunit, Comparative Genomic Hybridization
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