论文标题：A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome

期刊： Frontiers of Medicine

作者：Hequn Huang, Mengyun Chen, Xia Liu, Xixi Xiong, Lanbo Zhou, Zhonglan Su, Yan Lu, Bo Liang

发表时间：15 Jun 2023

DOI：10.1007/s11684-022-0933-2

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安徽医科大学第一附属医院梁波和南京医科大学第一附属医院鲁严等在Frontiers of Medicine发表研究论文《中国大家系中GJB6基因的新型变异具有Clouston综合征的独特表型》（A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome）。本研究对我国一个Clouston综合征大家系进行了全外显子测序和Sanger测序及临床检查，结果发现GJB6基因中的一种新型杂合错义变异。文章首次描述了患者指甲遇冷出现刺痛的新临床特征，且在患者毛发表面和内部观察到蜂窝状结构，丰富了Clouston综合征的变异类型和临床表型谱。

Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients’ hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.

Clouston综合征（OMIM #129500），又称有汗型外胚层发育不良2型，是一种罕见的常染色体显性遗传性皮肤疾病。目前已知GJB6基因的四个突变位点，即G11R、V37E、A88V和D50N，可导致该疾病。既往研究主要集中于基因测序，而对临床表现和发病机制的研究较少。为从分子水平确诊该家系、系统分析患者临床表型特征并为疾病机制研究提供依据，文章对我国一个Clouston综合征大家系进行了全外显子组测序及Sanger测序。同时开展包括组织病理学检查、毛发显微观察及扫描电镜检测在内的详细临床评估。研究发现了一个新的Clouston综合征杂合错义变异（c.134G>C:p.G45A）。所有患者都具有一种新的临床表型，即他们的所有指甲均出现刺痛，并且在扫描电子显微镜下观察到患者毛发中有特殊的蜂窝状孔结构。研究数据显示，这种新的变异（c.134G>C:p.G45A）可能为该家系的致病突变，同时强调了基因检测对Clouston综合征诊断的必要性。

期刊介绍

Frontiers of Medicine专注于发表临床医学和基础医学领域的最新研究成果，旨在通过全球医疗专业人员之间的交流促进健康和医疗保健的发展。该刊采用严格的同行评审和编辑流程，确保发表的文章的科学准确性、新颖性和重要性。

原文信息

标题

A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome

作者

Hequn Huang^1,2,3, Mengyun Chen^1,2,3, Xia Liu⁴, Xixi Xiong⁵, Lanbo Zhou⁵, Zhonglan Su⁵, Yan Lu⁵, Bo Liang^1,2,3,6

机构

1. Institute of Dermatology and Department of Dermatology, the First Affiliated Hospital, Anhui Medical University, Hefei 230000, China

2. Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei 230000, China

3. Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei 230000, China

4. Huai’an District Skin Disease Prevention and Treatment Hospital, Huai’an 223000, China

5. Department of Dermatology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210000, China

6. Department of Clinical Laboratory, The First Affiliated Hospital, Anhui Medical University, Hefei 230000, China

通讯作者

Yan Lu, Bo Liang

引用这篇文章

Hequn Huang, Mengyun Chen, Xia Liu, Xixi Xiong, Lanbo Zhou, Zhonglan Su, Yan Lu, Bo Liang. A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome. Front. Med., 2023, 17(2): 330–338 https://doi.org/10.1007/s11684-022-0933-2

https://journal.hep.com.cn/fmd/EN/10.1007/s11684-022-0933-2

https://link.springer.com/article/10.1007/s11684-022-0933-2

感谢作者对Frontiers of Medicine的信任和支持。

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