A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma
A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma
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DOI：
10.1007/s00403-004-0534-8
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发表时间：
2005-02-01
影响因子：
3
通讯作者：
Takagaki, K
中科院分区：
文献类型：
--
作者：
Kon, A;Itagaki, K;Takagaki, K
表皮性掌跖角化病（EPPK）是一种常染色体显性遗传性皮肤病，其特征是手掌和足底皮肤角化过度。在EPPK中已证实角蛋白9基因（KRT 9）突变。在这项研究中，我们筛选了一个日本家庭与EPPK KRT 9突变的基因组序列的聚合酶链反应扩增，然后异源双链分析和直接核苷酸测序。该突变由外显子1第162位密码子的G-至-C颠换组成，其位于先前已报道的突变热点（R162 Q和R162 W）。然而，氨基酸取代脯氨酸精氨酸（R162 P）在1A杆域，高度保守的螺旋起始基序的角蛋白9。我们的研究结果说明了KRT 9突变的剧目发生EPPK在日本的家庭，是一个重要的贡献调查的基因型/表型相关性。
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited skin disorder characterized by hyperkeratosis of the skin over the palms and soles. Mutations in keratin 9 gene (KRT9) have been demonstrated in EPPK. In this study, we screened a Japanese family with EPPK for KRT9 mutation by polymerase chain reaction amplification of genomic sequences, followed by heteroduplex analysis and direct nucleotide sequencing. The mutation consisted of a G-to-C transversion at codon 162 in exon 1, which was located in the hot spot of the mutations that have been reported previously (R162Q and R162W). However, the amino acid substitution was proline for arginine (R162P) in the 1A rod domain, the highly conserved helix initiation motif of keratin 9. Our result illustrates the repertoire of KRT9 mutation underlying the occurrence of EPPK in a Japanese family and is an important contribution to the investigation of the genotype/phenotype correlation.