Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen S P, Ponec M, Bon A, Lautenschlager S, Schorderet D F, Hohl D
Department of Dermatology, Centre Hospitalier Universitaire Vandois (CHUV), Hôpital de Beaumont, Lausanne, Switzerland.
Science. 1995 Jan 27;267(5197):525-8. doi: 10.1126/science.7824952.
Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis.
板层状鱼鳞病是一种严重的先天性皮肤疾病，其特征为全身出现大片鳞屑并伴有不同程度的发红。三个家族中的患病个体表现出角质形成细胞转谷氨酰胺酶（TGK）活性大幅降低。在其中两个家族中，TGK转录本的表达减少或异常，且未检测到TGK蛋白。在所有家族中均鉴定出TGK基因的纯合或复合杂合突变。这些数据表明，TGK缺陷导致板层状鱼鳞病，并且角质化细胞包膜的完整交联对于表皮组织稳态是必需的。
