在一名具有X连锁低汗性外胚层发育不良特征的患者中鉴定致病突变。这是一种遗传疾病，表现为牙齿少、出汗少和毛发稀疏。它由Ectodysplasin A基因中的突变引起，这个基因编码Ectodysplasin A，在肿瘤坏死因子超家族中是一个成员。对一名4岁男孩进行了基因分析，包括染色体微阵列分析、全外显子组测序和多重连接依赖性探针扩增分析，他表现出低汗性外胚层发育不良特征。此外，检测了孩子父母的临床意义的结果，以阐明在被检测者中检测到的发现的遗传模式。在这位4岁的患者中，Ectodysplasin A基因整个外显子4的新缺失被发现。这个缺失在被检测者的母亲中以杂合状态发现，而在他的父亲中没有被检测到。RNA分析揭示了在Ectodysplasin A基因外显子4中的一个正交错缺失r.527_706del，p.(176_236del)。我们在一名男性患者中鉴定到了Ectodysplasin A基因的一种新的大片段缺失，这是X连锁低汗性外胚层发育不良的。在低汗性外胚层发育不良患者中进行临床和分子遗传学分析对于确诊至关重要。这些结果突显了Ectodysplasin A的胶原蛋白结构域的重要性，该区域由外显子4编码，对其在体内的功能有影响。版权所有©2023 Elsevier Ltd。保留所有权利。

Identify the disease-causing mutation in a patient with features of X-linked hypohidrotic ectodermal dysplasia, which is a genetic disorder characterized by hypodontia, hypohidrosis and hypotrichosis. It is caused by mutations in Ectodysplasin A gene, which encodes ectodysplasin A, a member of the tumor necrosis factor superfamily.Genetic analysis, was performed using chromosomal microarray analysis, whole exome sequencing and multiplex ligation-dependent probe amplification analysis in a 4-year-old boy with hypohidrotic ectodermal dysplasia features. Moreover, the boy's parents were tested for clinically significant findings identified in order to elucidate the pattern of inheritance of the finding detected in the proband.A novel deletion of entire exon 4 in Ectodysplasin A gene identified in the 4-year-old patient. This deletion was found in heterozygous state in the mother of the proband and was not detected in his father. RNA analysis revealed an in-frame deletion r.527_706del, p.(176_236del) in exon 4 of the Ectodysplasin A gene.We identified a novel gross deletion in the Ectodysplasin A gene in a male patient with X-linked hypohidrotic ectodermal dysplasia. Clinical and molecular genetic analysis are crucial to set an accurate diagnosis in patients with hypohidrotic ectodermal dysplasia. These results highlight the importance of the collagen domain of Ectodysplasin A, encoded by exon 4, for its function in vivo.Copyright © 2023 Elsevier Ltd. All rights reserved.