Anhidrotic Ectodermal Dysplasia in a Child Due to a Rare Mutation in the EDA Gene (a Clinical Case)

Abstract

Anhidrotic ectodermal dysplasia is а heterogenous genetic disorder with multiple clinical manifestations. In medical examinations, including dental examinations, the differential aspect of diagnosis is important, since many forms of the disease have similar clinical manifestations. Of particular interest are the phenotypic effects of genetic mutations and numerous polymorphic variations of candidate genes for ectodermal dysplasia. The purpose of this study was to describe and analyse a clinical case of a patient with complete anodontia of deciduous teeth, partial anodontia of tooth buds of permanent teeth, impaired tooth formation and abnormal tooth shape due to anhidrotic ectodermal dysplasia as a result of a rare mutation in the ectodysplasin A (EDA) gene. Materials and methods. We analysed the phenotype of a male 19-month-old patient with dental pathology as a result of a disease caused by the presence of the polymorphic A allele of the EDA gene in the genotype. Further, this variation was analysed and its clinical significance was determined using the following databases: PubMed, eLIBRARY.RU, dbSNP, HGMD, GenBank, MutationTaster, PolyPhen-2, PROVEAN, and SIFT. Results. There is practically no data on the clinical significance of the c.1043C>A (р.Thr348Asn) polymorphism of the EDA gene; however the presence of clinical manifestations of the phenotype of anhidrotic ectodermal dysplasia in the patient suggests a negative effect of this single-nucleotide substitution. The described clinical case with a rare genetic disorder in dental practice is of undoubted interest to practitioners, as this pathology requires a comprehensive medical approach, long-term treatment and rehabilitation.

Keywords

• anhidrotic ectodermal dysplasia
• anodontia
• abnormalities of teeth and jaws
• eda gene
• singlenucleotide substitution