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Journal of Undergraduate Research

Keywords

ectodermal dysplasia, de novo mutation, dominantly inherited

College

Physical and Mathematical Sciences

Department

Chemistry and Biochemistry

Abstract

Ectodermal dysplasia (ED) is a genetic disorder dealing with improper formation of tissues derived from the ectoderm, such as skin and sweat glands. Many clinical manifestations of the disorder exist, which has led to the classification of over 170 types of ectodermal dysplasia (1). The observed phenotypes of the disorder include: conical teeth, missing or sparse eyebrows, inability to sweat, craniofacial defects, and digit malformation. Many genetic causes have been identified. A novel mutation in an individual’s DNA sequence has caused ectodermal dysplasia in several members of a Caucasian, American family we identify as Kindred 214. The family pedigree shows that the disorder is autosomal and dominantly inherited (Figure 1). The phenotypes presented in this family are conical teeth, dental dysplasia, abnormal skin pigmentation, abnormal skull patterning, craniofacial patterning defects, follicular dysplasia, digit malformation, and sparse or missing eyebrows. Two of the genes that have previously been linked to ectodermal dysplasia have also been shown to be dominantly inherited, EDARADD and TP63 (2, 3). We have chosen to begin by sequencing these genes, as well as EDAR, in search for the mutation responsible for ED in this family.

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