高度流行的丝氨酸蛋白酶抑制剂 B7 种系突变导致 Nagashima 型掌跖角化病的拟显性遗传模式。
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.
机构信息
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, 060-8638, Sapporo, Japan.
出版信息
Br J Dermatol. 2014 Oct;171(4):847-53. doi: 10.1111/bjd.13076. Epub 2014 Sep 22.
BACKGROUND
Nagashima-type palmoplantar keratosis (NPPK) is a distinct autosomal recessive genodermatosis characterized by diffuse transgressive palmoplantar keratoderma (PPK). Very recently, putative loss-of-function mutations in SERPINB7, which encodes a member of the serine protease inhibitor superfamily and is abundantly expressed in the epidermis, have been identified as a cause of NPPK.
OBJECTIVES
To confirm further the role of SERPINB7 mutations in the pathogenesis of NPPK.
METHODS
We analysed 10 Japanese families with NPPK using Sanger and/or whole-exome sequencing.
RESULTS
We identified one novel and three recurrent null mutations in SERPINB7. In all the families, the NPPK trait was inherited in an autosomal recessive manner; in one of the families, there was pseudodominant inheritance, which had not been described in NPPK.
CONCLUSIONS
These data clearly provide further evidence that NPPK is caused by loss-of-function mutations in SERPINB7.
背景
安田型掌跖角化病（NPPK）是一种独特的常染色体隐性遗传皮肤病，其特征为弥漫性进行性掌跖角化病（PPK）。最近，编码丝氨酸蛋白酶抑制剂超家族成员的 SERPINB7 中假定的功能丧失突变被确定为 NPPK 的病因。
目的
进一步证实 SERPINB7 突变在 NPPK 发病机制中的作用。
方法
我们使用 Sanger 和/或全外显子组测序分析了 10 个具有 NPPK 的日本家族。
结果
我们在 SERPINB7 中发现了一个新的和三个反复出现的无功能突变。在所有家族中，NPPK 特征均以常染色体隐性方式遗传；在其中一个家族中，存在拟显性遗传，这在 NPPK 中尚未描述。
结论
这些数据清楚地提供了进一步的证据，表明 NPPK 是由 SERPINB7 的功能丧失突变引起的。
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