A new keratin 2e mutation in ichthyosis bullosa of Siemens
A new keratin 2e mutation in ichthyosis bullosa of Siemens
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DOI：
10.1111/1523-1747.ep12286487
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发表时间：
1997-03-01
影响因子：
6.5
通讯作者：
Bowden, PE
中科院分区：
文献类型：
--
作者：
Jones, DO;Watts, C;Bowden, PE
大疱性鱼鳞病是一种罕见的常染色体显性遗传性皮肤病，其特征与表皮角化过度症相似。临床症状的特征是轻度角化过度，分布于肢端，组织学显示上棘细胞和颗粒细胞的表皮，而超微结构上，张力原丝形成核周聚集体，IBS与染色体12 q上的LT型角蛋白簇有关，最近在IBS患者中发现了K2e突变。我们研究了两个IBS家族的基因组DNA，在这两种情况下，在2B螺旋结构域中发现了杂合点突变。的K2E。一个家族在密码子493（E493K）有一个确定的突变，而另一个有一个未报告的突变。在相邻的密码子（E494K）。等位基因特异性PCR证实了这两种突变。这些数据加强了2B螺旋的TYRKLLEGEE基序突变对角蛋白丝网络完整性有害的假设，并为IBS中K2e突变的参与提供了进一步的证据。
Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin condition with features similar to epidermolytic hyperkeratosis (EH). Clinical symptoms are characterized by mild hyperkeratosis with an acral distribution, Histology shows epidermolysis of upper spinous and granular cells, whereas ultrastructurally, tonofilaments form perinuclear aggregates, IBS has been linked to the type LT keratin cluster on chromosome 12q, and K2e mutations have recently been identified in IBS patients. We have studied genomic DNA from two IBS families and in both cases heterozygous point mutations were found in the 2B helical domain. of K2e. One family had an established mutation in codon 493 (E493K), whereas the other had an unreported mutation. in the adjacent codon (E494K). Both mutations were confirmed by allele-specific PCR, These data reinforce the hypothesis that mutations in the TYRKLLEGEE motif of the 2B helix are deleterious to keratin filament network integrity and provide further evidence for the involvement of K2e mutations In IBS.