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首页> 外文期刊>The Journal of investigative dermatology. >Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.
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Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.

机译：Vohwinkel角质病中的Loricrin突变是鱼鳞病变种的独有特征。

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A mutation in the glycine-rich cornified envelope protein loricrin has recently been reported in Vohwinkel's keratoderma (honeycomb keratoderma with pseudoainhum), in a pedigree amongst whom ichthyosis was also a feature. We have studied two further families with Vohwinkel's keratoderma for evidence ofloricrin mutations. Our first family (VK1) also had ichthyosis but not deafness. In lesional and nonlesional skin, granular and transitional cell layers were increased. In immunoelectron-microscopic studies cornified envelopes were abnormally thin and were labeled densely by anti-involucrin antibodies, but only sparsely by antiloricrin antibodies; however, abnormal intranuclear granules seen in granular and cornified layer cells were labeled by antibodies to both C- and N-terminal loricrin. Microsatellite markers in VK1 supported linkage to the loricrin locus in the epidermal differentiation complex at 1q21 (Zmax = 2.48). The loricrin gene was sequenced, identifying a heterozygous mutation as previously reported: a G insertion producing a frameshift after codon 231 and an abnormal C-terminal peptide lacking residues necessary for cross-linking. In our second family (VK2), affected members had sensorineural deafness but not ichthyosis. Immunoelectron-microscopic studies showed normal loricrin distribution, and assuming complete penetrance, linkage to 1q21 was excluded. Vohwinkel's keratoderma is thus clinically and genetically heterogeneous. Only the variant with ichthyosis appears to be due to loricrin mutation. As the arginine-rich domain in C-terminal loricrin caused by the frameshift contains several potential bipartite nuclear localization signals, we suggest that the intranuclear accumulation of loricrin in VK1 is due to these motifs, and may be unique to insertional mutation.
机译：最近在沃温克尔的角化皮病（蜂窝状角化皮病与假棘皮病）中报道了富含甘氨酸的玉米化包膜蛋白loricrin发生突变，这种谱系也是鱼鳞病的一个特征。我们已经研究了另外两个带有Vohwinkel's角质病的家庭，以寻找氯霉素突变的证据。我们的第一个家庭（VK1）也患有鱼鳞病，但没有耳聋。在病变和非病变皮肤中，颗粒和过渡细胞层增加。在免疫电子显微镜研究中，角质化的被膜异常薄，被抗-inluclucrin抗体密集地标记，而被抗loricrin抗体稀疏地标记。然而，在粒状和角质层细胞中见到的异常核内颗粒都被针对C端和N端loricrin的抗体标记。 VK1中的微卫星标记在1q21（Zmax = 2.48）支持与表皮分化复合物中的loricrin基因座的连锁。对loricrin基因进行了测序，如先前报道的那样鉴定了杂合突变：G插入在231号密码子后产生移码，C末端肽异常，缺少交联所必需的残基。在我们的第二个家庭（VK2）中，受影响的成员患有感觉神经性耳聋，但没有鱼鳞病。免疫电子显微镜研究显示叶黄素分布正常，假设完全渗透，则排除了与1q21的连锁。因此，Vohwinkel的角质病在临床和遗传上都是异质的。仅具有鱼鳞病的变体似乎是由于loricrin突变。由于移码引起的C末端loricrin中富含精氨酸的结构域包含几个潜在的二分核定位信号，因此我们认为VK1中loricrin的核内积累是由于这些基序，并且可能是插入突变所独有的。

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