伴有角蛋白9 p.R163W突变的家族性表皮松解性掌跖角化病中的可能预期现象
Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.
作者信息
Guo Y, Shi M, Tan Z P, Shi X L
机构信息
Department of Internal Medicine, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
Department of Ophthalmology, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
出版信息
Genet Mol Res. 2014 Oct 7;13(4):8089-93. doi: 10.4238/2014.October.7.3.
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin. The Keratin 9 (KRT9) and Keratin 1 genes are responsible for EPPK. Several previous studies have focused on the genetic basis of EPPK; however, genetic anticipation has not yet been reported. We described a four-generation family with EPPK and identified a p.R163W mutation of KRT9. We observed a decrease in the age of onset in three consecutive generations in the family of the proband, indicating possible genetic anticipation in this familial EPPK. Further studies are needed to elucidate the mechanisms of anticipation in EPPK.
表皮松解性掌跖角化病（EPPK）是一种常染色体显性疾病，其特征为手掌和足底表皮弥漫性角化过度，伴有红斑边缘。角蛋白9（KRT9）和角蛋白1基因与EPPK发病相关。此前已有多项研究聚焦于EPPK的遗传基础；然而，尚未有遗传早现的报道。我们描述了一个患有EPPK的四代家族，并鉴定出KRT9基因的p.R163W突变。我们观察到先证者家族中连续三代的发病年龄降低，提示该家族性EPPK可能存在遗传早现现象。需要进一步研究以阐明EPPK中遗传早现的机制。
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