Impact of DYRK1A Haploinsufficiency on Facial Morphology using Three-Dimensional Morphometric Analysis

Authors

Stefani Hammond, University of Central FloridaFollow

Mentor

Dr. Lana Williams

Abstract

Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A) is a gene present on human chromosome 21. Previous research suggests that this gene plays a developmental role in facial morphology. We hypothesize that individuals with DYRK1A haploinsufficiency have altered facial morphology with potentially unique patterns of facial variation. To assess this hypothesis, we acquired three-dimensional (3D) photogrammetric facial images of individuals with and without DYRK1A haploinsufficiency, and we measured anatomical landmarks to carry out Euclidean Distance Matrix Analysis (EDMA) and to evaluate global and local morphological differences. Our results show unique patterns of variation between individuals with DYRK1A haploinsufficiency and normal siblings, as well as unrelated normal controls, supporting our hypothesis. These results identify exactly how and where DYRK1A haploinsufficiency changes patterns of facial morphology. Additionally, these results may have clinical relevance by identifying regions of the face that can benefit from early developmental interventions, therapeutic measures, or potentially plastic surgery.

About the Author

Stefani Hammond is a UCF alumnus who graduated in Spring 2020 with a B.A. in Anthropology. She is currently pursuing her Ph. D. in Functional Anatomy and Evolution. She has presented this research at SURE in 2018 and 2019, the 2018 SURF poster conference, and the 2019 UCF Anthropology Conference. She is thankful for all the opportunities that UCF has provided her, especially the Anthropology Department, Office of Undergraduate Research, and the McNair Scholars Program.

Recommended Citation

Hammond, Stefani (2020) "Impact of DYRK1A Haploinsufficiency on Facial Morphology using Three-Dimensional Morphometric Analysis," The Pegasus Review: UCF Undergraduate Research Journal: Vol. 12: Iss. 1, Article 3.
Available at: https://stars.library.ucf.edu/urj/vol12/iss1/3