Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis
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DOI：
10.1111/j.1365-2133.2010.10096.x
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发表时间：
2011-02-01
影响因子：
10.3
通讯作者：
Grimberg, G.
中科院分区：
文献类型：
--
作者：
Arin, M. J.;Oji, V.;Grimberg, G.
表皮样鱼鳞病（epidereconticichthyosis，EI）是一种由角蛋白1（keratin 1，KRT 1）或角蛋白10（keratin 10，KRT 10）基因突变引起的遗传性角化疾病。在大多数严重EI病例中，在KRT 1和KRT 10高度保守的螺旋边界基序处发现杂合单点突变，这些基序在细丝形成中起关键作用。掌跖角化病的存在表明KRT 1突变，而KRT 10突变在大多数情况下产生nonpalmoplantar variants. ObjectiveTo identify the underlying mutations in patients with EI and to correlate genotype and phenotype.MethodsMutation analysis was performed in 28 patients with EI by direct sequencing of KRT 1 and KRT 10 genes.ResultsWe identified 14 different mutations，其中四个还没有发表previous.ConclusionsIdentification的新突变和基因型-表型相关性EI可以提高疾病的发病机制，以及更好的患者管理的理解。
P>BackgroundEpidermolytic ichthyosis (EI) is a hereditary keratinization disorder caused by mutations in the keratin 1 (KRT1) or keratin 10 (KRT10) genes. In most cases of severe EI, heterozygous single point mutations are found at the highly conserved helix boundary motifs of KRT1 and KRT10 that play a critical role in filament formation. The presence of palmoplantar keratoderma suggests KRT1 mutations, whereas KRT10 mutations in most instances give rise to the nonpalmoplantar variants.ObjectivesTo identify the underlying mutations in patients with EI and to correlate genotype and phenotype.MethodsMutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes.ResultsWe identified 14 different mutations, of which four have not been published previously.ConclusionsIdentification of novel mutations and genotype-phenotype correlations in EI allows improved understanding of disease pathogenesis as well as better patient management.