IDENTIFICATION OF EDA MUTATION IN A VIETNAMESE PATIENT WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA

Abstract

Hypohidrotic ectodermal dysplasia (HED) (OMIM # 305100) is a rare genetic disorder caused by mutations in EDA, EDAR, and EDARADD genes. Patients with HED present the abnormal development of epidermal structures, including sparse hair, abnormal or missing teeth, and no sweat glands. Here, mutations in the EDA gene were screened for a Vietnamese family with a child affected with hypohidrotic ectodermal dysplasia using Sanger sequencing. A hemizygous mutation NM_001399.4: c.2T>C was found in the proband. Patient’s father and sister had a homozygous wildtype. The mutation was known to be pathogenic and inherited from the mother who was heterozygous for the mutation. The results contribute to molecular studies on hypohidrotic ectodermal dysplasia and can be used for genetic counseling and clinical management.