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.

中文翻译：

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一名受 X 连锁少汗性外胚层发育不良影响的伊朗患者的 EDA 基因出现新的移码突变。

目的 外胚层发育不良的特点是外胚层结构发育异常。少汗性外胚层发育不良（HED）是最常见的亚型。它们通常通过 X 连锁隐性途径遗传。我们报告了一种预计与 HED 发病机制有关的新型 ectodysplasin-A (EDA) 突变。方法使用二代测序（NGS）分析少汗性外胚层发育不良基因，包括EDA、EDAR和EDARADD。使用 Sanger 测序在患者及其母亲中确认了检测到的 EDA 基因突变。结果 患者出现牙痛、牙龈发育不全、体温过高和少汗症。我们对患者的遗传分析揭示了 EDA 基因上的一种新的移码半合子突变（c.898_924 + 8del35ins4CTTA）。患者 她的母亲表现出轻微的 HED 表型。对她儿子发生突变的区域的 EDA 基因进行直接测序，结果显示相同的突变处于杂合状态。结论 我们在一名受 X 连锁 HED 影响的伊朗患者的 EDA 基因中发现了一种新的移码突变。我们患者的症状与之前一些受试者记录的症状之间的差异可能是由于所涉及的突变不同所致。