Liovic M, Podrumac B, Dragos V, Vouk K, Komel R
Medical Center for Molecular Biology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Hum Hered. 2000 Jul-Aug;50(4):234-6. doi: 10.1159/000022921.
A novel missense mutation was detected in the L12 region of keratin 5 (K5) in a Slovene family diagnosed with a Weber-Cockayne variant of epidermolysis bullosa simplex (EBS). Direct sequencing identified a heterozygous GAC to GAA substitution altering codon 328 of K5 from Asp to Glu in all affected family members, while no mutation was observed either in the healthy individual or the 50 unrelated control samples. Asp(328) of K5 (position 12 in the L12 domain) is remarkably conserved among all type II keratins. K5 L12:D12E is the third mutation found to affect this residue in K5-related EBS, indicating the importance of Asp(328) for K5 structure and the dramatic effect that fine changes can have on keratin intermediate filament integrity.
在一个被诊断患有单纯性大疱性表皮松解症（EBS）的Weber-Cockayne变异型的斯洛文尼亚家族中，在角蛋白5（K5）的L12区域检测到一种新的错义突变。直接测序确定，在所有受影响的家庭成员中，存在一个从GAC到GAA的杂合子替换，导致K5的第328位密码子从Asp变为Glu，而在健康个体或50个无关对照样本中均未观察到突变。K5的Asp(328)（L12结构域中的第12位）在所有II型角蛋白中高度保守。K5 L12:D12E是在与K5相关的EBS中发现的影响该残基的第三个突变，表明Asp(328)对K5结构的重要性以及微小变化对角蛋白中间丝完整性可能产生的显著影响。
