Genotype-Phenotype Correlation in Boys With X-Linked Hypohidrotic Ectodermal Dysplasia
Genotype-Phenotype Correlation in Boys With X-Linked Hypohidrotic Ectodermal Dysplasia
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DOI：
10.1002/ajmg.a.36541
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发表时间：
2014-10-01
影响因子：
2
通讯作者：
Schneider, Holm
中科院分区：
文献类型：
--
作者：
Burger, Kristin;Schneider, Anne-Theres;Schneider, Holm
X-连锁少汗性外胚层发育不良（XLHED）是外胚层发育不良的最常见形式，是外胚层发育的遗传性疾病，其特征在于多个外胚层结构如皮肤、毛发、汗腺和皮脂腺以及牙齿的畸形。这种疾病是由EDA基因的广泛突变引起的。虽然XLHED症状表现出家族间和家族内的变异性，但基因型-表型相关性已被证明与汗腺功能有关。在这项研究中，我们调查了EDA基因型与XLHED相关皮肤和毛发体征严重程度的相关性。19名男性儿童XLHED（年龄范围3-14岁）和7名对照组（年龄6-14岁）进行了检查，共聚焦显微镜的皮肤，定量毛果芸香碱诱导出汗，半定量评价全面部照片与XLHED相关的皮肤问题，和photogram分析。所有8名已知具有亚型EDA突变的男孩都能够产生至少一些汗液，并且显示出比无汗性XLHED患者更不严重的XLHED皮肤体征（e.例如，在一个实施例中，口周和眶周湿疹或色素沉着过度、局部角化过度、眼睛下的特征性皱纹）。正如预期的那样，XLHED患者的头发比健康对照组明显更少更薄。然而，在头发数量、直径和其他头发特征方面，亚型EDA突变组和无汗患者之间也存在显著差异。总之，这项研究表明，在青春期前男性XLHED的皮肤和头发的发现显着的基因型-表型相关性。(C)2014年威利期刊公司
X-linked hypohidrotic ectodermal dysplasia (XLHED), the most frequent form of ectodermal dysplasia, is a genetic disorder of ectoderm development characterized by malformation of multiple ectodermal structures such as skin, hair, sweat and sebaceous glands, and teeth. The disease is caused by a broad spectrum of mutations in the gene EDA. Although XLHED symptoms show inter-familial and intra-familial variability, genotype-phenotype correlation has been demonstrated with respect to sweat gland function. In this study, we investigated to which extent the EDA genotype correlates with the severity of XLHED-related skin and hair signs. Nineteen male children with XLHED (age range 3-14 years) and seven controls (aged 6-14 years) were examined by confocal microscopy of the skin, quantification of pilocarpine-induced sweating, semi-quantitative evaluation of full facial photographs with respect to XLHED-related skin issues, and phototrichogram analysis. All eight boys with known hypomorphic EDA mutations were able to produce at least some sweat and showed less severe cutaneous signs of XLHED than the anhidrotic XLHED patients (e. g., perioral and periorbital eczema or hyperpigmentation, regional hyperkeratosis, characteristic wrinkles under the eyes). As expected, individuals with XLHED had significantly less and thinner hair than healthy controls. However, there were also significant differences in hair number, diameter, and other hair characteristics between the group with hypomorphic EDA mutations and the anhidrotic patients. In summary, this study indicated a remarkable genotype-phenotype correlation of skin and hair findings in prepubescent males with XLHED. (C) 2014 Wiley Periodicals, Inc.