Rothnagel J A, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow M R, Saeki H, Ishibashi Y, Roop D R
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030.
Nat Genet. 1994 Aug;7(4):485-90. doi: 10.1038/ng0894-485.
Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have identified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot. Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re-examined for mutations in their K2e genes.
西门斯大疱性鱼鳞病（IBS）是一种常染色体显性遗传性皮肤病，与表皮松解性角化过度症（EHK）相似。我们在最初被诊断为EHK的两个家族以及被诊断为IBS的四个家族中，发现了位于角蛋白2e杆状结构域高度保守的羧基末端同一密码子处的突变，从而揭示了一个突变热点。我们的研究结果有助于在基因水平上对IBS和EHK进行鉴别诊断，并且我们建议，对于那些被诊断为EHK但缺乏角蛋白K1或K10突变的患者，应重新检查其K2e基因是否存在突变。
