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Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations
Abstract
Craniosynostosis, the premature fusion of one or more cranial sutures, affects 1 in 2,500 live births. Isolated single‐suture fusion is most prevalent, with sagittal synostosis occurring in 1/5,000 live births. The etiology of isolated (nonsyndromic) single‐suture craniosynostosis is largely unknown. In syndromic craniosynostosis, there is a highly nonrandom pattern of causative autosomal dominant mutations involving TWIST1 and fibroblast growth factor receptors (FGFRs). Prior to our study, there were no published TWIST1 mutations in the anti‐osteogenic C‐terminus, recently coined the TWIST Box, which binds and inhibits RUNX2 transactivation. RUNX2 is the principal master switch for osteogenesis. We performed mutational analysis on 164 infants with isolated, single‐suture craniosynostosis for mutations in TWIST1, the IgIIIa exon of FGFR1, the IgIIIa and IgIIIc exons of FGFR2, and the Pro250Arg site of FGFR3. We identified two patients with novel TWIST Box mutations: one with isolated sagittal synostosis and one with isolated coronal synostosis. Kress et al. [2006] reported a TWIST Box “nondisease‐causing polymorphism” in a patient with isolated sagittal synostosis. However, compelling evidence suggests that their and our sequence alterations are pathogenic: (1) a mouse with a mutation of the same residue as our sagittal synostosis patient developed sagittal synostosis, (2) mutation of the same residue precluded TWIST1 interaction with RUNX2, (3) each mutation involved nonconservative amino acid substitutions in highly conserved residues across species, and (4) control chromosomes lacked TWIST Box sequence alterations. We suggest that genetic testing of patients with isolated sagittal or coronal synostosis should include TWIST1 mutational analysis. © 2007 Wiley‐Liss, Inc.
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“No genotype-phenotype correlation is described, except that large deletions are associated with learning disability (not generally a feature of Saethre-Chotzen syndrome), 26,27 and occasional missense mutations in the C-terminal Twist box apparently confer increased risk of a more non-specific synostosis phenotype (with unknown penetrance).28”
From Craniosynostosis (2011) · cites this paper as [28]
In the citing paper
“Variants in TWIST1, FGFR1, and FGFR2 have been described, although each accounts for only a minor proportion of cases [62, 98, 120].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [98]
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Metadata
- Authors
- Seto, M. L., Hing, A. V., Chang, J., Hu, M., Kapp‐Simon, K. A., Patel, P. K., Burton, B. K., Kane, A. A., Smyth, M. D., Hopper, R., Ellenbogen, R. G., Stevenson, K., Speltz, M. L., & Cunningham, M. L.
- Affiliations
- University of Washington (US)
- Seattle Children's Hospital (US)
- Northwestern University (US)
- Washington University in St. Louis (US)
- Children's Healthcare of Atlanta (US)
- Corresponding author
- Seto, Marianne L.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2007-03-07
- Volume
- 143A
- Issue
- 7
- Pages
- 678-686
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W1972462110
- Cited by
- 108
- References
- 50
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 3 · 2023: 5 · 2022: 3 · 2021: 4 · 2020: 5 · 2019: 7 · 2018: 4 · 2017: 4 · 2016: 6 · 2015: 7 · 2014: 6 · 2013: 7 · 2012: 9
- FWCI
- 3.75
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Dental and Craniofacial Research (R01- DE 13813, R01DE013813)
- Topics
- Health Sciences › Medicine › Surgery › Craniofacial Disorders and Treatments
- Health Sciences › Dentistry › General Dentistry › dental development and anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- craniosynostosis, TWIST1, FGFR1, FGFR2, FGFR3, Runx2, bone formation, nonsyndromic craniosynostosis, genetic testing, mouse model
- MeSH terms
- Amino Acid Sequence, Animals, Binding Sites, Craniosynostoses, Humans, Infant, Molecular Sequence Data, Nuclear Proteins, Point Mutation, Protein Structure, Tertiary, Core Binding Factor Alpha 1 Subunit, Twist-Related Protein 1
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