title: A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.
abstract: A previously undescribed missense mutation was detected in the L12 domain of keratin 5 (K5) in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. Direct sequencing of the PCR products identified a single base substitution (983A-->G) that changes the aspartic acid residue at codon 328 to glycine in all affected family members, while no mutation was observed either in the healthy individual or 50 unrelated control samples. Asp328 of K5 is remarkably conserved among all type II keratins. D328G is the fourth mutation found to affect this residue in K5-related epidermolysis bullosa simplex, indicating the importance of Asp328 for K5 structure and the dramatic effect that fine changes can have on keratin intermediate filament integrity.
authors.affiliation: Department of Dermatology, Second Hospital of Xi'an Jiaotong University, Xi'an, China. ljg006@sina.com
authors.forename: J-G
authors.initials: JG
authors.lastname: Li
authors.forename: J
authors.initials: J
authors.lastname: Feng
authors.forename: S-X
authors.initials: SX
authors.lastname: Xiao
authors.forename: Y-L
authors.initials: YL
authors.lastname: Ai
authors.forename: J-M
authors.initials: JM
authors.lastname: Wang
authors.forename: Z-H
authors.initials: ZH
authors.lastname: Peng
mesh_terms: D000328:Adult; D001483:Base Sequence; D002681:China; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D053555:Keratin-5; D007633:Keratins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
chemical_list: C503940:KRT5 protein, human; D053555:Keratin-5; D007633:Keratins