A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.

IF 1.9 4区 医学 Q3 DERMATOLOGY
Clinical, Cosmetic and Investigational Dermatology Pub Date : 2024-06-25 eCollection Date: 2024-01-01 DOI:10.2147/CCID.S451125
Yuan Zhuang, Ru Zhang, Miaomiao Li, Yaru Zou, Shui Jiang, Yanan Zhang, Shiguo Liu, Bo Yu
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Abstract

Introduction: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that influences structures of ectodermal origin, such as teeth, hair, and sweat glands. Compared with autosomal recessive and dominant modes of inheritance, the X-linked HED (XLHED) characterized by Hypodontia/Oligodontia teeth, Absent/sparse hair, Anhidrosis/hypohidrosis, and characteristic facial features, is the most frequent and its primary cause is the mutation of ectodysplasin A (EDA) gene. This research aimed to expound the clinical and molecular features of a Chinese male with XLHED and to summarize and compare several previous findings.

Methods: Genomic DNA was obtained from the peripheral blood of the proband and his family members, then Sanger sequencing was used to perform a mutational analysis of EDA. Real-time quantitative PCR and Western blotting were used to detect EDA expression. The transcriptional activity of NF-κB was detected using a luciferase assay.

Results: The probandwith XLHED was identified a novel EDA mutation, c.1119G>C(p.M373I), that affected the molecular analysis of transmembrane protein exon8 mutations, inherited from the mother. He showed a severe multiple-tooth loss, with over 20 permanent teeth missing and sparse hair and eyebrows, dry, thin, and itching skin. Furthermore, his sweating function was abnormal to a certain extent.

Discussion: The functional study showed that this novel mutant led to a significant decrease in the EDA expression level and transcriptional activity of NF-κB. Our findings extend the range of EDA mutations in XLHED patients, which provides the basis and idea for further exploring the pathogenesis of XLHED.

一种新型外胚层增生蛋白 a 基因突变导致的 X 连锁皮下外胚层发育不良症
导言:多汗症外胚层发育不良(HED)是一种遗传性疾病,影响牙齿、毛发和汗腺等外胚层结构。与常染色体隐性遗传和显性遗传相比,X 连锁 HED(XLHED)以牙齿发育不全/畸形、毛发缺失/稀少、无汗/多汗症和特征性面部特征为特征,发病率最高,其主要原因是外胚层增生蛋白 A(EDA)基因突变。本研究旨在阐述一名中国男性 XLHED 患者的临床和分子特征,并总结和比较之前的一些研究结果:方法:从该患者及其家庭成员的外周血中获取基因组 DNA,然后利用 Sanger 测序技术对 EDA 基因进行突变分析。采用实时定量 PCR 和 Western 印迹技术检测 EDA 的表达。使用荧光素酶检测法检测 NF-κB 的转录活性:结果:XLHED患者的母亲遗传了一种新型的EDA突变c.1119G>C(p.M373I),该突变影响了跨膜蛋白外显子8突变的分子分析。他表现出严重的多牙缺失,20 多颗恒牙缺失,头发和眉毛稀疏,皮肤干燥、稀薄、瘙痒。此外,他的排汗功能也有一定程度的异常:功能研究表明,这种新型突变体导致 EDA 表达水平和 NF-κB 转录活性显著下降。我们的研究结果扩大了XLHED患者EDA突变的范围,为进一步探讨XLHED的发病机制提供了依据和思路。
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来源期刊
CiteScore
2.80
自引率
4.30%
发文量
353
审稿时长
16 weeks
期刊介绍: Clinical, Cosmetic and Investigational Dermatology is an international, peer-reviewed, open access journal that focuses on the latest clinical and experimental research in all aspects of skin disease and cosmetic interventions. Normal and pathological processes in skin development and aging, their modification and treatment, as well as basic research into histology of dermal and dermal structures that provide clinical insights and potential treatment options are key topics for the journal. Patient satisfaction, preference, quality of life, compliance, persistence and their role in developing new management options to optimize outcomes for target conditions constitute major areas of interest. The journal is characterized by the rapid reporting of clinical studies, reviews and original research in skin research and skin care. All areas of dermatology will be covered; contributions will be welcomed from all clinicians and basic science researchers globally.
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