Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M
Laboratoire de Génétique moléculaire, INSERM U.91, Hôpital Henri Mondor, Créteil, France.
Nat Genet. 1993 Apr;3(4):327-32. doi: 10.1038/ng0493-327.
Epidermolysis bullosa simplex (EBS) is a group of epidermal blistering diseases almost invariably transmitted as a dominant trait, which has recently been shown to arise from mutations in keratins 14 and 5 (K14 and K5). We describe a family with recessive EBS in which the disease is tightly linked to the substitution of the highly conserved glutamic acid-144 to alanine in the first helical segment of the rod domain of keratin 14. In contrast, linkage with keratin 5 was excluded. The loss of an ionic interaction with keratin 5 is likely to affect K14-K5 heterodimer formation. Our data suggest that this mutation underlies EBS in our family, and that mutations in keratin genes may impair the mechanical integrity of basal keratinocytes in a recessive as well as dominant fashion.
单纯性大疱性表皮松解症（EBS）是一组几乎均以显性性状遗传的表皮水疱性疾病，最近研究表明其由角蛋白14和5（K14和K5）的突变引起。我们描述了一个患隐性EBS的家系，该疾病与角蛋白14杆状结构域第一螺旋段中高度保守的谷氨酸-144被丙氨酸替代紧密相关。相比之下，排除了与角蛋白5的连锁关系。与角蛋白5离子相互作用的丧失可能会影响K14-K5异二聚体的形成。我们的数据表明，该突变是我们家系中EBS的病因，并且角蛋白基因突变可能以隐性和显性方式损害基底角质形成细胞的机械完整性。
