Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.
Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.
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DOI：
10.1111/1346-8138.16310
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发表时间：
2022-05
影响因子：
3.1
通讯作者：
Wang, Xiaopeng
中科院分区：
文献类型：
--
作者：
Xiao, Tong;Liu, Yan;Wang, Tian;Ren, Junru;Xia, Yumin;Wang, Xiaopeng
Nagashima型掌跖角化病（NPPK）是一种弥散性、常染色体隐性、非表皮松解性掌跖角化病，由丝氨酸蛋白酶抑制剂超家族成员SERPINB7基因突变引起。遗传研究和病例报告表明，NPPK是东亚最常见的掌跖角化病，但在西方国家很少见。本研究报告了中国汉族7个家系的8例NPPK患者，其中SERPINB7有2个新突变（C . 530t >C和C . 643a >G）和2个复发突变（C . 796c >T和C . 455g >T）。由于典型的表现和致病基因检测，NPPK的诊断现在得到了很好的定义。然而，其病理机制尚不清楚，治疗仍是一个挑战。本研究回顾了1000基因组计划中所有15个致病突变和相关数据，以阐明SERPINB7的奠基效应。此外，还介绍了东亚以外地区的几个最新NPPK病例，包括法国、芬兰和泰国。进一步的临床调查和遗传学研究对于确定NPPK的病理机制至关重要。此外，还需要大规模的对照研究来确定现有疗法的安全性和疗效。
Nagashima‐type palmoplantar keratosis (NPPK) is a diffuse, autosomal recessive, and non‐epidermolytic palmoplantar keratosis caused by mutations in the SERPINB7 gene, a member of the serine protease inhibitor superfamily. Genetic studies and case reports suggest that NPPK is the most common palmoplantar keratosis in East Asia but rare in Western countries. This study reports eight NPPK patients in seven pedigrees of the Chinese Han ethnicity with two novel (c.530T>C and c.643A>G) and two recurrent mutations (c.796C>T and c.455G>T) in SERPINB7. The diagnosis of NPPK is now well‐defined because of the typical manifestations and pathogenic gene tests. However, its pathomechanism is still obscure, and treatment remains a challenge. This study reviewed all 15 pathogenic mutations and related data in the 1000 Genomes Project to elucidate the founder effect of SERPINB7. Also, several latest cases of NPPK in areas outside East Asia are presented, including France, Finland, and Thailand. Further clinical investigation and genetic studies are crucial for identifying the pathomechanism of NPPK. Also, large‐scale control studies are required to determine the safety and curative effects of available therapies.
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