頁籤選單縮合
| 題 名 | A Novel Mutation in the L12 Domain of Keratin 5 in the Kobner Variant of Epidermolysis Bullosa Simplex=一單純水泡表皮鬆解症Kobner亞型病例的基因突變研究 |
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| 作 者 | 許劭民; 李玉雲; 楊美惠; 趙曉秋; | 書刊名 | 中華皮膚科醫學雜誌 |
| 卷 期 | 23:1 2005.03[民94.03] |
| 頁 次 | 頁32-35 |
| 分類號 | 415.681 |
| 關鍵詞 | 表皮水泡鬆解症; 表皮內水泡; Epidermolysis bullosa simplex; Kobner type; Mutation analysis; Keratin 5 gene; |
| 語 文 | 英文(English) |
| 中文摘要 | 表皮水泡鬆解症是遺傳性水泡症的一種,以機械性壓力引起基底細胞退化造成的表皮內水泡爲其特徵。有三種體染色體顯性遺傳的亞型:Weber-Cockayne型、Kobner型(EBS-K)和Dowling-Meara型。此三種亞型均是因表皮內主要的解質基因〔keratin 5或keratin 14基因〕突變所造成的。我們報告一位出生就有全身性水泡的女嬰,根據其廣泛的病灶及電子顯微鏡下角質細胞缺乏keratin filament的聚焦,診斷爲EBS-K。分析研究顯示在keratin 5有一尚未被報告過的突變(967G>A),導致第323個氨基酸由擷氨酸(valine)變爲甲硫氨酸(methionine) (V323M),此一氨基酸位於L12鏈結區(linker domain)之第七個位置。 |
| 英文摘要 | Epidermolysis bullosa simplex (EBS) is a group of hereditary bullous diseases, characterized by intraepidermal blistering due to mechanical stress-induced degeneration of basal keratinocytes. Three major subtypes have been identified with autosomal dominant inheritance: Weber-Cockayne type, Köbner type (EBS-K), and Dowling-Meara type. These three EBS subtypes are all caused by mutations in either keratin 5 gene or keratin 14 gene, the major keratins expressed in the basal layer of the epidermis. We describe a female newborn with generalized blistering over the whole body since birth. Based on the clinical features of widespread blistering at birth, histopathological finding of intra-basal vesicle and ultrastructural findings of basal cell cytolysis without prominent clumping of tonofilaments, EBS-K was diagnosed. Mutational analysis revealed a novel keratin 5 mutation (967G>A) that produces an amino acid change (valine to methionine) at position 323 (V323M) of the seventh residue within the L12 linker domain. |
本系統中英文摘要資訊取自各篇刊載內容。