{Reference Type}: Case Reports
{Title}: A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia.
{Author}: Rahbaran M;Hassani Doabsari M;Salavitabar S;Mokhberian N;Morovvati Z;Morovvati S;
{Journal}: Cell Mol Biol Lett
{Volume}: 24
{Issue}: 0
{Year}: 2019
{Factor}: 8.702
{DOI}: 10.1186/s11658-019-0174-9
{Abstract}: <B>UNASSIGNED: </B>Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes. We report on a novel ectodysplasin-A (EDA) mutation that is expected to be involved in pathogenesis of HED.<BR><B>UNASSIGNED: </B>Hypohidrotic ectodermal dysplasia genes, including EDA, EDAR and EDARADD, were analyzed using next-generation sequencing (NGS). The detected mutation on the EDA gene was confirmed in the patient and his mother using Sanger sequencing.<BR><B>UNASSIGNED: </B>The patient presented with adontia, absence of gum development, hyperthermia and hypohidrosis. Our genetic analysis of the patient revealed a novel frameshift hemizygous mutation (c.898_924 + 8del35ins4CTTA) on the EDA gene. The patient's mother showed a mild HED phenotype. Direct sequencing of the EDA gene in the region where her son had the mutation showed the same mutation in a heterozygous state.<BR><B>UNASSIGNED: </B>We identified a novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked HED. The difference between our patient's symptoms and those recorded for some previous subjects may be due to the differences in the mutations involved.