Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report
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INSTRUCTION: Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role in developing this disease. Here, we report the case in China of a 2-year-boy dolichocephaly craniosynostosis. Karyotyping by both G-bind staining and array-based DNA hybridization identified microduplications on Chromosomes 8p11.22 q12.1 and 16q11.2 q21, but none of the known pathogenic mutations was detected. CONCLUSIONS: This finding not only expands knowledge on the genetic mechanism of craniosynostosis but also provides a new target for the early diagnosis of this rare disease.
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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 [124]
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Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis
Wilkie, A. O. M., Byren, J. C., Hurst, J. A., Jayamohan, J., Johnson, D., Knight, S. J. L., Lester, T., Richards, P. G., Twigg, S. R. F., & Wall, S. A. (2010) · Pediatrics · doi:10.1542/peds.2009-3491 · Cited by 297 · see citing works
A Genetic-Pathophysiological Framework for Craniosynostosis
Twigg, S. R. F., & Wilkie, A. O. M. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.07.006 · Cited by 276 · see citing works
Fibroblast growth factor (FGF) signaling in development and skeletal diseases
Teven, C. M., Farina, E. M., Rivas, J., & Reid, R. R. (2014) · Genes & Diseases · doi:10.1016/j.gendis.2014.09.005 · Cited by 237 · see citing works
Genetics of Craniosynostosis: Genes, Syndromes, Mutations and Genotype-Phenotype Correlations
Passos‐Bueno, M. R., Sertie, A. L., Jehee, F. S., Fanganiello, R. D., & Yeh, E. (2008) · Frontiers of oral physiology/Frontiers of oral biology · doi:10.1159/000115035 · Cited by 163 · see citing works
Vogels, A., & Fryns, J. (2006) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-1-19 · Cited by 145 · see citing works
Odak, L., Barišić, I., Morožin-Pohovski, L., Riegel, M., & Schinzel, A. (2011) · Croatian Medical Journal · doi:10.3325/cmj.2011.52.415 · Cited by 143 · see citing works
Diagnostic value of exome and whole genome sequencing in craniosynostosis
Miller, K. A., Twigg, S. R. F., McGowan, S. J., Phipps, J. M., Fenwick, A. L., Johnson, D., Wall, S. A., Noons, P., Rees, K. E. M., Tidey, E. A., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104215 · Cited by 121 · see citing works
Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis
Klopocki, E., Lohan, S., Brancati, F., Koll, R., Brehm, A., Seemann, P., Dathe, K., Stricker, S., Hecht, J., Bosse, K., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.006 · Cited by 104 · see citing works
Craniosynostosis: A Radiological and Surgical Perspective
Kirmi, O., Lo, S. J., Johnson, D., & Anslow, P. (2009) · Seminars in Ultrasound CT and MRI · doi:10.1053/j.sult.2009.08.002 · Cited by 101 · see citing works
Signaling mechanisms implicated in cranial sutures pathophysiology: Craniosynostosis
Katsianou, M. A., Adamopoulos, C., Vastardis, H., & Basdra, E. K. (2016) · BBA Clinical · doi:10.1016/j.bbacli.2016.04.006 · Cited by 66 · see citing works
Pure de novo partial trisomy 6p in a girl with craniosynostosis
Varvagiannis, K., Stefanidou, A., Gyftodimou, Y., Lord, H., Williams, L., Sarri, C., Pandelia, E., Bazopoulou-Kyrkanidou, E., Noakes, C., Lester, T., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35727 · Cited by 60 · see citing works
Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis
Park, J., Park, O., Yoon, W., Kim, H., Choi, K., Cho, T., & Ryoo, H. (2011) · Journal of Cellular Biochemistry · doi:10.1002/jcb.23368 · Cited by 25 · see citing works
FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome.
Lin, Y., Liang, X., Ai, S., et al. (2012) · PubMed · Cited by 18 · see citing works
Lin, Y., Ai, S., Chen, C., et al. (2012) · PubMed · Cited by 13 · see citing works
FGFR2 mutation in a Chinese family with unusual Crouzon syndrome
Li, Z., Chen, X., Zhuang, W., et al. (2016) · International Journal of Ophthalmology · doi:10.18240/ijo.2016.10.06 · Cited by 13 · see citing works
A Novel FGFR2 Mutation in Tyrosine Kinase II Domain, L617F, in Crouzon Syndrome
Suh, Y., Bae, H., Choi, J., et al. (2013) · Journal of Cellular Biochemistry · doi:10.1002/jcb.24637 · Cited by 12 · see citing works
Wang, E., Nam, H. K., Liu, J., et al. (2015) · Orthodontics and Craniofacial Research · doi:10.1111/ocr.12080 · Cited by 10 · see citing works
An FGF8b-mimicking peptide with potent antiangiogenic activity
Lin, X., Li, S., He, D. N., et al. (2017) · Molecular Medicine Reports · doi:10.3892/mmr.2017.6651 · Cited by 7 · see citing works
Self-citationLin, Y. N., Gao, H., Ai, S., et al. (2017) · Molecular Medicine Reports · doi:10.3892/mmr.2017.7248 · Cited by 6 · see citing works
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Genetics versus environment in the pathophysiology of sagittal synostosis
De Gregorio, V., Tosi, D. D., Vita, A., Salvati, M., Massimi, L., Tamburrini, G., Tiberio, F., & Lattanzi, W. (2026) · Child's Nervous System · doi:10.1007/s00381-026-07396-5 · Cited by 2 · see citing works
- Authors
- Yu, D., Li, S., Liu, Q., & Zhang, K.
- Affiliations
- Qingdao University (CN)
- Corresponding author
- Yu, Dongyi
- Venue
- Medicine
- Published
- 2017-12
- Volume
- 96
- Issue
- 49
- Pages
- e8729
- ISSN
- 0025-7974 (ISSN-L)
- PMC
- PMC5728844
- OpenAlex
- W2771968566
- Cited by
- 4
- References
- 19
- Citations by year
- 2026: 1 · 2024: 1 · 2022: 1 · 2017: 1
- FWCI
- 0.18
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc
- Locations
- Medicine (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- Qingdao University
- 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 › Genetics › Genomics and Rare Diseases
- Keywords
- craniosynostosis, dolichocephaly, chromosomal microduplication, FGFR mutations, cranial suture fusion, genetic diagnosis
- MeSH terms
- Child, Preschool, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 8, Craniosynostoses, Head, Humans, Karyotyping, Male, Chromosome Duplication
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