Clinical and genetic characteristics of craniosynostosis in Hungary
Open accessAbstract
Craniosynostosis, the premature closure of cranial sutures, is a common craniofacial disorder with heterogeneous etiology and appearance. The purpose of this study was to investigate the clinical and molecular characteristics of craniosynostoses in Hungary, including the classification of patients and the genetic analysis of the syndromic forms. Between 2006 and 2012, 200 patients with craniosynostosis were studied. Classification was based on the suture(s) involved and the associated clinical features. In syndromic cases, genetic analyses, including mutational screening of the hotspot regions of the FGFR1, FGFR2, FGFR3, and TWIST1 genes, karyotyping and FISH study of TWIST1, were performed. The majority (88%) of all patients with craniosynostosis were nonsyndromic. The sagittal suture was most commonly involved, followed by the coronal, metopic, and lambdoid sutures. Male, twin gestation, and very low birth weight were risk factors for craniosynostosis. Syndromic craniosynostosis was detected in 24 patients. In 17 of these patients, Apert, Crouzon, Pfeiffer, Muenke, or Saethre–Chotzen syndromes were identified. In one patient, multiple‐suture craniosynostosis was associated with achondroplasia. Clinical signs were not typical for any particular syndrome in six patients. Genetic abnormalities were detected in 18 syndromic patients and in 8 relatives. In addition to 10 different, known mutations in FGFR1,FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg), was detected in the TWIST1 gene of a patient with Saethre–Chotzen syndrome. Our results indicate that detailed clinical assessment is of paramount importance in the classification of patients and allows indication of targeted molecular testing with the highest possible diagnostic yield. © 2015 Wiley Periodicals, Inc.
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The majority of studies reported an odds ratio of male occurring CS ranging from 1.46 to 4.5, with a geometric mean of ~2.7.
“The majority of the studies studied the odds ratio of male occurring CS with an OR ranging from 1.46 to 4.5 (with geometric mean of ~ 2.7) [2, 3, 15, 26, 50, 53, 74, 80, 82, 86, 96–98, 102, 103, 117].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [50]
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- Authors
- Bessenyei, B., Nagy, A., Szakszon, K., Mokánszki, A., Balogh, E., Ujfalusi, A., Tihanyi, M., Novák, L., Bognár, L., & Oláh, É.
- Affiliations
- University of Debrecen (HU)
- Department of Laboratory Medicine, Faculty of Medicine University of Debrecen Debrecen Hungary
- Genetic Laboratory Hospital of Zala County Zalaegerszeg Hungary
- Corresponding author
- Bessenyei, Beáta
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2015-08-20
- Volume
- 167
- Issue
- 12
- Pages
- 2985-2991
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2136500351
- Cited by
- 16
- References
- 35
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 3 · 2020: 3 · 2017: 3 · 2016: 1
- FWCI
- 0.91
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- University of Debrecen Electronic Archive (University of Debrecen) (submittedVersion, other-oa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- craniosynostosis, syndromic craniosynostosis, nonsyndromic craniosynostosis, FGFR1, FGFR2, FGFR3, TWIST1, Saethre-Chotzen syndrome, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, Muenke syndrome, achondroplasia, novel missense mutation, cranial sutures, genetic risk factors
- MeSH terms
- Acrocephalosyndactylia, Adolescent, Adult, Child, Child, Preschool, Craniosynostoses, Female, Humans, Hungary, Infant, Male, Mutation, Nuclear Proteins, Risk Factors, Receptor, Fibroblast Growth Factor, Type 1, Receptor, Fibroblast Growth Factor, Type 2, Receptor, Fibroblast Growth Factor, Type 3, Twist-Related Protein 1
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