Purpose: 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 () mutation that is expected to be involved in pathogenesis of HED.

Methods: Hypohidrotic ectodermal dysplasia genes, including , and , were analyzed using next-generation sequencing (NGS). The detected mutation on the gene was confirmed in the patient and his mother using Sanger sequencing.

Results: 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 gene. The patient's mother showed a mild HED phenotype. Direct sequencing of the gene in the region where her son had the mutation showed the same mutation in a heterozygous state.

Conclusion: We identified a novel frameshift mutation in the 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700831PMC
http://dx.doi.org/10.1186/s11658-019-0174-9DOI Listing

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