A Novel Missense Mutation in the EDAR Gene and One Missense Mutation in EDA Gene in the Study of HED Patients in Iran

: Hypohidrotic ectodermal dysplasia (HED) is the most common type of that result faulty development leading to such defects as hypotrichosis, anodontia or hypodontia, and hypohidrosis anhidrosis. X-linked HED caused by mutations in ectodysplasin A (EDA) gene accounts for 90% all cases. Autosomal other involved genes, EDA-receptor (EDAR) gene. In this study, we included two distinct families with three patients. We collected 5 mL peripheral blood from probands, associated parents, 120 matched unrelated controls (from related ethnicity) without any disorder. DNA was extracted using routine salting-out protocol leukocytes. Polymerase chain reaction (PCR) purification bidirectional Sanger sequencing PCR products were performed. identified p.R156H (c.467 G>A) mutation EDA affected brothers their carrier mother (family 1) a novel missense c.1210G>A (p.A404T) EDAR 4-year-old boy his heterogeneous parents 2). Clinical evaluation, genetic findings, bioinformatic analysis supported deleterious effects both on products, which should be considered assessment cases Southwest Iran.