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Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■外胚层发育不良的特征是外胚层结构的发育异常。多汗性外胚层发育不良(HED)是最常见的亚型。它们最常见的是通过X连锁隐性途径遗传。我们报道了一种新的外生体异常蛋白A（EDA）突变，该突变有望与HED的发病机理有关。
■少汗症外胚层发育不良基因，包括EDA,EDAR和EDARADD,使用下一代测序（NGS）进行分析。使用Sanger测序在患者及其母亲中证实了在EDA基因上检测到的突变。
■患者出现阿东蒂亚，没有牙龈发育，高热和多汗症。我们对患者的遗传分析揭示了EDA基因上的新型移码半合子突变（c.898_9248del35ins4CTTA）。患者的母亲表现为轻度HED表型。在她儿子具有突变的区域中的EDA基因的直接测序显示了处于杂合状态的相同突变。
■我们在一名受X连锁HED影响的伊朗患者中发现了一种新的EDA基因移码突变。我们患者的症状与以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的差异。
■少汗症外胚层发育不良基因，包括EDA,EDAR和EDARADD,使用下一代测序（NGS）进行分析。使用Sanger测序在患者及其母亲中证实了在EDA基因上检测到的突变。
■患者出现阿东蒂亚，没有牙龈发育，高热和多汗症。我们对患者的遗传分析揭示了EDA基因上的新型移码半合子突变（c.898_9248del35ins4CTTA）。患者的母亲表现为轻度HED表型。在她儿子具有突变的区域中的EDA基因的直接测序显示了处于杂合状态的相同突变。
■我们在一名受X连锁HED影响的伊朗患者中发现了一种新的EDA基因移码突变。我们患者的症状与以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的差异。
