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Journal of Undergraduate Research

Keywords

ectodermal dysplasia, dominantly inherited, genetic disorder

College

Physical and Mathematical Sciences

Department

Chemistry and Biochemistry

Abstract

Ectodermal Dysplasia is a genetic disorder associated with the abnormal development of hair, teeth, nails, tear ducts, sweat glands, and occasionally gross craniofacial or digit structure. ED is caused by a defective in the growth and development of the ectoderm where their tissues are derived. There are several different types of ED; to determine exactly what is causing each form of ED several genes have been investigated1. TP63, Ectodysplasin A, EDAR, tumer necrosis factor receptor associated factor 6, dentin sialophophoprotein, Dlx3, TBX22, Wnt10, Plakophilin-1 (PKP1), gap junction beta-6 protein (GJB6), porcupine homolog (PORCN), and EVC have all been identified with ED. Ninety percent of tested ED cases are caused by mutations in EDAR, Wnt10A, EDARADD, and EDA2. We investigated EDARADD within a family dominantly inheriting ED. We collected blood or saliva samples from five individuals affected by ED and eleven unaffected family members. The samples drawn were tested with primers created from previous research; these primers amplify the exons of a gene of interest for further study. The DNA was then extracted, purified, and sequenced in the BYU DNA sequencing center. We will attempt to determine the mutation within this individual and subsequently with others. With this research we hope to develop possible genes for potential therapeutic targets as well as earlier prognoses of ED.

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