A Novel Frameshift Mutation in the Eda Gene in an Iranian Patient Affected by X-Linked Hypohidrotic Ectodermal Dysplasia

A Novel Frameshift Mutation in the Eda Gene in an Iranian Patient Affected by X-Linked Hypohidrotic Ectodermal Dysplasia Publisher Pubmed

Rahbaran M¹ ; Hassani Doabsari M¹ ; Salavitabar S¹ ; Mokhberian N² ; Morovvati Z³ ; Morovvati S⁴

Source: Cellular and Molecular Biology Letters Published:2019

Abstract

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 (EDA) mutation that is expected to be involved in pathogenesis of HED. Methods: 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. 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 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. Conclusion: 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. © 2019 The Author(s).

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Style	Citing Format
MLA	Rahbaran M, et al.. "A Novel Frameshift Mutation in the Eda Gene in an Iranian Patient Affected by X-Linked Hypohidrotic Ectodermal Dysplasia." Cellular and Molecular Biology Letters, vol. 24, no. 1, 2019, pp. -.
APA	Rahbaran M, Hassani Doabsari M, Salavitabar S, Mokhberian N, Morovvati Z, Morovvati S (2019). A Novel Frameshift Mutation in the Eda Gene in an Iranian Patient Affected by X-Linked Hypohidrotic Ectodermal Dysplasia. Cellular and Molecular Biology Letters, 24(1), -.
Chicago	Rahbaran M, Hassani Doabsari M, Salavitabar S, Mokhberian N, Morovvati Z, Morovvati S. "A Novel Frameshift Mutation in the Eda Gene in an Iranian Patient Affected by X-Linked Hypohidrotic Ectodermal Dysplasia." Cellular and Molecular Biology Letters 24, no. 1 (2019): -.
Harvard	Rahbaran M et al. (2019) 'A Novel Frameshift Mutation in the Eda Gene in an Iranian Patient Affected by X-Linked Hypohidrotic Ectodermal Dysplasia', Cellular and Molecular Biology Letters, 24(1), pp. -.
Vancouver	Rahbaran M, Hassani Doabsari M, Salavitabar S, Mokhberian N, Morovvati Z, Morovvati S. A Novel Frameshift Mutation in the Eda Gene in an Iranian Patient Affected by X-Linked Hypohidrotic Ectodermal Dysplasia. Cellular and Molecular Biology Letters. 2019;24(1):-.
BibTex	@article{ author = {Rahbaran M and Hassani Doabsari M and Salavitabar S and Mokhberian N and Morovvati Z and Morovvati S}, title = {A Novel Frameshift Mutation in the Eda Gene in an Iranian Patient Affected by X-Linked Hypohidrotic Ectodermal Dysplasia}, journal = {Cellular and Molecular Biology Letters}, volume = {24}, number = {1}, pages = {-}, year = {2019} }
RIS	TY - JOUR AU - Rahbaran M AU - Hassani Doabsari M AU - Salavitabar S AU - Mokhberian N AU - Morovvati Z AU - Morovvati S TI - A Novel Frameshift Mutation in the Eda Gene in an Iranian Patient Affected by X-Linked Hypohidrotic Ectodermal Dysplasia JO - Cellular and Molecular Biology Letters VL - 24 IS - 1 SP - EP - PY - 2019 ER -

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