title: A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family.
abstract: We report a Chinese family with members affected by epidermolytic ichthyosis (EI), caused by KRT gene mutations. The proband was a 14-year-old boy who had simultaneous appearance of nephroblastoma and epidermolytic ichthyosis (EI). Both the patient and his mother exhibited the specific clinical and pathological manifestations of EI. We analysed all exons and flanking sequences of the KRT1 and KRT10 genes using PCR, and found that the proband and his mother had a G>C transition at nucleotide position 1432 in exon 7 of KRT1, resulting in an amino acid substitution of glutamate (GAA) to glutamine (CAA) at codon 478 (E478Q). The KRT10 gene had no mutations.
authors: Department of Dermatology, Second Hospital of Ji Lin University, Changchun, China.
authors: Y Z
authors: YZ
authors: Ji
authors: Department of Dermatology, Second Hospital of Ji Lin University, Changchun, China.
authors: Y
authors: Y
authors: Bai
authors: Department of Dermatology, Second Hospital of Ji Lin University, Changchun, China.
authors: S
authors: S
authors: Wang
authors: Department of Dermatology, Second Hospital of Ji Lin University, Changchun, China.
authors: F Q
authors: FQ
authors: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002681:China; D003062:Codon / Q000235:genetics; D005260:Female; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics*; D053556:Keratin-1 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult
chemical_list: D003062:Codon; C491616:KRT1 protein, human; D053556:Keratin-1