18th Annual Student Research Conference
Science
Mutations in Two Critical Genes Linked to Ellis-van Creveld Syndrome
Anuoluwapo O. Orebiyi
Dr. Edward Ginns (University of Massachusetts Medical School), Dr. Marzena Galdzicka (University of Massachusetts Medical School), and Dr. Brent Buckner, Faculty Mentors
Ellis van Creveld Syndrome (EvC) is an autosomal recessive skeletal dysplasia disorder. Although two critical genes, EVC and EVC2, were linked to EvC, there is still a lot to learn about the amino acids that these genes code for and their direct relationship to the manifestation of EvC in affected individuals. Within this study, we found not only amino acid changes in EVC and EVC2, but we also found a possibly critical mutation in exon 6 of EVC that might have a direct effect on the expression of this syndrome within the patient.
Keywords: Ellis-van Creveld, EVC1, EVC2, mutation, alleles
Topic(s):Biology
Presentation Type: Poster
Session: 29-71
Location: OP Lobby & Atrium
Time: 1:15