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A KRT 1 gene mutation related to epidermolytic ichthyosis in a Chinese family
Author(s) -
Ji Y. Z.,
Bai Y.,
Wang S.,
Li F. Q.
Publication year - 2015
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12649
Subject(s) - exon , proband , genetics , gene , mutation , biology , transition (genetics) , glutamine , microbiology and biotechnology , amino acid
Summary 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 KRT 1 and KRT 10 genes using PCR , and found that the proband and his mother had a G>C transition at nucleotide position 1432 in exon 7 of KRT 1 , resulting in an amino acid substitution of glutamate ( GAA ) to glutamine ( CAA ) at codon 478 (E478Q). The KRT 10 gene had no mutations.