Objective: To detect ED1 gene mutation in three hypohidrotic ectodermal dysplasia (HED) nuclear families.
Methods: Peripheral blood samples were obtained from three different families of hypohidrotic ectodermal dysplasia. Genomic DNA was extracted. Polymerase chain reaction, direct sequencing and restriction enzyme reaction were performed to identify the mutations.
Results: Different missense mutation in ED1 gene were found in each family: C412G, A1201G and C1375T. Two of the mutations had not been previously reported.
Conclusion: Mutations in the ED1 gene are responsible for the phenotypes of HED of the patients in the family.