The EDA Genetic Testing And Clinical Analysis Of Families With Hypohidrotic Ectodermal Dysplasia

Objective The author collected four HED families which combined with congenital hypodontia or oligodontia, analyzed their clinical types and EDA gene sequence to evaluate the pathogenic mutation position, type, and provided a basis for clinical diagnosis and prediction.Method Collect peripheral blood of family probands and their relatives, detect EDA gene by polymerase chain reaction (PCR) and DNA sequencing method, so we can know the position of the mutation, type, which provide the basis for clinical and genetic diagnosis and treatment. We analyzed the developmental conditions, craniofacial morphology and using oral clinical examination, model analysis and cephalometrics to understand clinical manifestations, prosthodontics treatments’ characteristics and effect of HED patients.Results1. Results of the genetic analysisThere was EDA gene mutation in each family, respectively c.466C> T, c.633-697del, c.587-615del,c.878T> G. The last three mutations have not been reported.2. Results of the clinical analysis Probands of4HED families have typical clinical manifestations, including abnormal development of the skin, hair, nails, teeth, and sweat glands.The analysis of Lateral cephalogram shows that HED patients are lack of the development of both maxillary and mandibular bone. We achieve good results by using reasonable prosthodontics treatment according to the different number and sites of missing teeth.Conclusion1. EDA gene mutations (c.466C> T, c.633-697del, c.587-615del, c.878T> G.) are pathogenic causes for hypohidrotic ectodermal dysplasia.2. Compared with the normal population, patients with HED are lack of the development of both maxillary and mandibular bone.3. Patients with Hypohidrotic Ectodermal Dysplasia need long-term comprehensive sequence therapy. Early and reasonable prosthodontics treatment can improve patients’face type, pronunciation and mastication, et al.