Nagashima-type palmoplantar keratosis in a Chinese Han population.
Nagashima-type palmoplantar keratosis in a Chinese Han population.
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DOI：
10.3892/mmr.2016.5757
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发表时间：
2016-11
影响因子：
3.4
通讯作者：
Yao Z
中科院分区：
文献类型：
--
作者：
Zhang J;Zhang G;Ni C;Cheng R;Liang J;Li M;Yao Z
长岛型掌跖角化病(NPPK)是由SERPINB7基因突变引起的一种常染色体隐性遗传性掌跖角化病(PPK)。NPPK仅在日本和中国人群中有报道。本研究对12名临床上预测患有NPPK的无关中国患者进行了研究。通过直接测序SERPINB7、SLURP1、AQP5、csta、KRT1和KRT9基因的全部编码区进行突变筛查。SERPINB7直接测序在9例患者中发现5个方正突变(C.796C>；T)和4个复合杂合突变，其中包括1个新突变(c.122_127delTGGTCC)。12例患者中有9例因SERPINB7致病突变而被诊断为NPPK，这一结果扩大了NPPK的已知突变谱。考虑到其他7名通过基因检测确诊为NPPK的中国患者，本研究进一步证明NPPK在中国大陆中国中是一个常见的实体，而C.796C>；T是最常见的突变，并发挥创始人效应。此外，与包括Mal de Meleda和Olmsted综合征在内的其他类型相对严重的PPK相关的表型变异程度相比，本研究中描述的NPPK病例表现出一贯的轻度表型。
Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing of the entire coding regions of SERPINB7, SLURP1, AQP5, CSTA, KRT1 and KRT9 genes. Direct sequencing of SERPINB7 revealed five homozygous founder mutations (c.796C>T) and four compound heterozygous mutations in nine patients, including one novel mutation (c.122_127delTGGTCC). Nine out of the 12 patients were diagnosed with NPPK due to SERPINB7 pathogenic mutations, and the results expanded the known mutation spectrum of NPPK. Taking the other seven reported Chinese patients, who had been definitively diagnosed with NPPK by genetic testing, into account, the present study further demonstrated that NPPK is a common entity in Mainland China, and c.796C>T is the most prevalent mutation and exerts a founder effect. Furthermore, the NPPK cases described in the current study presented a consistently mild phenotype, as compared with the degrees of phenotypic variability associated with other types of relatively severe PPK, including Mal de Meleda and Olmsted syndrome.
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影响因子：
10.3
作者：
Moosbrugger-Martinz, V.;Jalili, A.;Gruber, R.
通讯作者：
Gruber, R.
影响因子：
--
作者：
Kabashima, Kenji;Sakabe, Jun-ichi;Tokura, Yoshiki
通讯作者：
Tokura, Yoshiki
影响因子：
9.8
作者：
Kubo, Akiharu;Shiohama, Aiko;Amagai, Masayuki
通讯作者：
Amagai, Masayuki
影响因子：
5.3
作者：
Eckl, KM;Stevens, HP;Hennies, HC
通讯作者：
Hennies, HC
影响因子：
--
作者：
Bchetnia, Mbarka;Laroussi, Nadia;Benmously, Rym
通讯作者：
Benmously, Rym