Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms
Open accessAbstract
We report RNA‐Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis‐related genes. Genetic burden analysis identified a significant increase in damaging variants in ATR , EFNA4 , ERF , MEGF8 , SCARF2 , and TGFBR2 . Of 391 participants, 15% were found to have damaging and potentially causal variants in 29 genes. We observed transmission in 96% of the affected individuals, and thus penetrance, epigenetics, and oligogenic factors need to be considered when recommending genetic testing in patients with nonsyndromic craniosynostosis.
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Environmental influences, including in utero mechanical constraints, maternal health conditions, medication exposure, and other prenatal risk factors, have been proposed as contributing factors particularly in non-syndromic cases.
“Environmental influences have also been proposed as contributing factors, particularly in non-syndromic cases. These include in utero mechanical constraints, maternal health conditions, medication exposure, and other prenatal risk factors [1, 2, 11, 22–25].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [25]
The Discussion (page unavailable) suggests that gene–environment interactions may help explain incomplete penetrance in single-suture craniosynostosis, supporting a possible environmental contribution. It does not identify in utero mechanical constraints, maternal health conditions, medication exposure, or other prenatal risk factors as contributors. (LLM, conf=0.82)
Experimental — accuracy not yet measuredStudy designs such as case reports, case series, and small observational studies limit generalizability and causal inference, although they are useful for hypothesis generation.
“Although useful for hypothesis generation, these study designs limit generalizability and causal inference [12, 25].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [25]
The Discussion (page unavailable) says the study identified candidate variants but did not establish causality; further functional studies would be needed. That supports the point about generating leads without establishing causation, but the paper does not discuss case reports, case series, or small observational studies as a class, or their limits on generalizability. (LLM, conf=0.78)
Experimental — accuracy not yet measured
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“Craniosynostosis, as a major or minor feature, has been associated with over 150 different syndromes (Kabbani & Raghuveer, 2004; Ye et al., 2016); however, single suture fusions account for approximately 85% of all patients diagnosed with craniosynostosis (Heuze, Holmes, Peter, Richtsmeier, & Jabs,…”
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Self-citationStojmenović, M. T., Lukšić, V. R., Vranešić, I. I., Radošević, V., Žigman, T., Paar, M. H., & Hanževački, J. Š. (2021) · Cardiologia Croatica · doi:10.15836/ccar2021.188
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Novel IL11RA Compound Heterozygous Variants in a Chinese Pediatric Patient With Pancraniosynostosis
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- Authors
- Clarke, C. M., Fok, V. T., Gustafson, J. A., Smyth, M. D., Timms, A. E., Frazar, C. D., Smith, J. D., Birgfeld, C. B., Lee, A., Ellenbogen, R. G., Gruss, J. S., Hopper, R. A., & Cunningham, M. L.
- Affiliations
- Seattle Children's Research Institute (US)
- St. Louis Children's Hospital (US)
- University of Washington (US)
- Seattle Children's Hospital (US)
- Corresponding author
- Cunningham, Michael L.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2017-11-23
- Volume
- 176
- Issue
- 2
- Pages
- 290-300
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC5768450
- OpenAlex
- W2769488701
- Cited by
- 44
- References
- 41
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 4 · 2023: 6 · 2022: 6 · 2021: 9 · 2020: 4 · 2019: 7 · 2018: 3
- FWCI
- 2.53
- Type
- journal article
- Language
- en
- Update notices
- correction (2018-09-20)
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Dental and Craniofacial Research (DE018227‐10)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Keywords
- single-suture craniosynostosis, nonsyndromic craniosynostosis, rare variants, genetic burden, ATR, ERF, TGFBR2, genetic testing, penetrance, oligogenic inheritance
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