Xu Z, Dong H, Sun X, Zhu X, Yang Y
Department of Dermatology, Peking University First Hospital, No. 8 Xishiku Street, Beijing 100034, China.
Clin Exp Dermatol. 2004 Jan;29(1):74-6. doi: 10.1111/j.1365-2230.2004.01434.x.
A new missense mutation in the keratin 5 gene (KRT5) in a Chinese family with Weber-Cockayne type epidermolysis bullosa simplex is reported. Direct sequencing identified a heterozygous A --> C substitution at nucleotide 596 altering codon 199 of KRT5 from lysine to threonine in all affected family members, but not in the unaffected family members or in 50 unrelated control samples. The mutation is designated K199T. This mutated lysine residue is sited within the 1A domain of keratin 5 and is highly conserved among all type II keratins. The mutation may perturb the alignment of tonofilaments and, as a consequence, result in skin fragility and blistering.
报道了一个患韦伯-科凯恩型单纯性大疱性表皮松解症的中国家系中，角蛋白5基因（KRT5）发生了一种新的错义突变。直接测序发现在所有患病家庭成员中，核苷酸596处存在杂合的A→C替换，导致KRT5的第199密码子由赖氨酸变为苏氨酸，而未患病家庭成员及50个无关对照样本中则未发现该突变。该突变被命名为K199T。这个发生突变的赖氨酸残基位于角蛋白5的1A结构域内，在所有II型角蛋白中高度保守。该突变可能会扰乱张力丝的排列，进而导致皮肤脆弱和水疱形成。
