The Role of Ellis‐Van Creveld 2(EVC2) in Mice During Cranial Bone Development
Open accessAbstract
EvC syndrome is a type of autosomal‐recessive chondrodysplasia. Previous case studies in patients suggest abnormal craniofacial development, in addition to dwarfism and tooth abnormalities. To investigate how craniofacial development is affected in EvC patients, surface models were generated from micro‐CT scans of control mice, Evc2 global mutant mice and Evc2 neural crest‐specific mutant mice. The anatomic landmarks were placed on the surface model to assess the morphological abnormalities in the Evc2 mutants. Through analyzing the linear and angular measurements between landmarks, we identified a smaller overall skull, shorter nasal bone, shorter frontal bone, and shorter cranial base in the Evc2 global mutants. By comparing neural crest‐specific Evc2 mutants with control mice, we demonstrated that the abnormalities within the mid‐facial regions are not accounted for by the Evc2 mutation within these regions. Additionally, we also identified disproportionate length to width ratios in the Evc2 mutants at all levels from anterior to posterior of the skull. Overall, this study demonstrates a more comprehensive analysis on the craniofacial morphological abnormalities in EvC syndrome and provides the developmental insight to appreciate the impact of Evc2 mutation within the neural crest cells on multiple aspects of skull deformities. Anat Rec, 2017. © 2017 Wiley Periodicals, Inc. Anat Rec, 301:46–55, 2018. © 2017 Wiley Periodicals, Inc.
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Genes with HHMCs such as PLXNA2, EVC2, MEPE, OMD, and SPAG17 are known to affect craniofacial bone and tooth morphologies.
“genes with HHMCs such as PLXNA2139, EVC2140, MEPE141, OMD142, and SPAG17143 are known to affect craniofacial bone and tooth morphologies.”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [140]
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A catalog of single nucleotide changes distinguishing modern humans from archaic hominins
Kuhlwilm, M., & Boeckx, C. (2019) · Scientific Reports · doi:10.1038/s41598-019-44877-x · Cited by 108 · see citing works
- Authors
- Kwon, E. K., Louie, K., Kulkarni, A., Yatabe, M., Ruellas, A. C. D. O., Snider, T. N., Mochida, Y., Cevidanes, L. H. S., Mishina, Y., & Zhang, H.
- Affiliations
- University of Michigan (US)
- Department of Orthodontics and Pediatric Dentistry, School of Dentistry University of Michigan Michigan
- Boston University (US)
- Corresponding author
- Zhang, Honghao
- Venue
- The Anatomical Record
- Publisher
- Wiley
- Published
- 2017-10-06
- Volume
- 301
- Issue
- 1
- Pages
- 46-55
- ISSN
- 1932-8486 (ISSN-L)
- 1932-8494
- PMC
- PMC5729076
- OpenAlex
- W2760616534
- Cited by
- 17
- References
- 32
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 5 · 2021: 1 · 2020: 2 · 2019: 2 · 2018: 2
- FWCI
- 1.09
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- The Anatomical Record (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Deep Blue (University of Michigan) (submittedVersion)
- Funders
- National Institutes of Health (R01DE019527, R01DE020843)
- National Institute of Dental and Craniofacial Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Physical Sciences › Mathematics › Geometry and Topology › Morphological variations and asymmetry
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Cleft Lip and Palate Research
- Keywords
- Ellis-van Creveld syndrome, EVC2, cranial bone development, craniofacial development, neural crest cells, chondrodysplasia, skull morphology, nasal bone, frontal bone, skull base, mouse mutants
- MeSH terms
- Animals, Bone Development, Disease Models, Animal, Ellis-Van Creveld Syndrome, Female, Humans, Male, Membrane Proteins, Mice, Inbred C57BL, Mice, Transgenic, Mutation, Neural Crest, Phenotype, Skull, Craniofacial Abnormalities, Intercellular Signaling Peptides and Proteins, Mice, X-Ray Microtomography
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