R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis
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DOI：
10.1111/j.1346-8138.2007.00328.x
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发表时间：
2007-08-01
影响因子：
3.1
通讯作者：
Ikeda, Shigaku
中科院分区：
文献类型：
--
作者：
Haruna, Kunitaka;Suga, Yasushi;Ikeda, Shigaku
我们报告一位37岁的日本男性，其皮肤持续干燥，躯干和四肢有轻微红斑。左膝关节皮肤活检显示明显的表皮棘皮病和角化过度，以及较轻的颗粒状变性。超微结构分析显示，角蛋白细丝聚集在表皮的基底层角质形成细胞内。通过直接测序，我们在角蛋白10的1A杆状结构域片段(CGC到TGC，精氨酸到半胱氨酸；R156C)的第466位发现了一个等位基因的单核苷酸替换。临床表现和分子分析表明，在本病例中，KRT10基因的R156C突变导致了轻度的表皮松解性角化过度(EHK)。
A 37-year-old Japanese male presented to us with persistent asteatotic skin with mild erythema on the trunk and extremities. Skin biopsy from the left knee showed marked epidermal acanthosis and hyperkeratosis, and milder granular degeneration. Ultrastructural analysis revealed clumping of the keratin filaments within suprabasal keratinocytes of the epidermis. Following direct sequencing, we found a single nucleotide substitution in one allele at the residue position 466 of the 1 A rod domain segment (CGC to TGC, arginine to cysteine; R156C) in keratin 10. Clinical manifestations and molecular analysis indicated that R156C mutation in keratin 10 gene (KRT10) causes a mild form of epidermolytic hyperkeratosis (EHK) in the presented case.