AKRT1gene 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.

Identification of Critical Genes for Ovine Horn Development Based on Transcriptome during the Embryonic Period

“…Additionally, our study provides some possible candidate genes for horn development, including the KRT10 , KRT1, FMOD , free fatty acid receptor 4 ( FFAR4 ), serine protease 22 ( PRSS22 ), signal peptide, CUB domain, and EGF-like domain containing 2 ( SCUBE2 ), extracellular matrix protein 1 ( ECM1 ), and keratin 24 ( KRT24) genes. The genes KRT10 and KRT1 are expressed in keratinocytes during early differentiation [ 38 ], and their mutations cause epidermolytic hyperkeratosis [ 39 , 40 , 41 , 42 ]. In this study, KRT1 (FPKM = 3399) and KRT10 (FPKM = 2037) were found to be highly expressed in the horn buds, implying that KRT1 and KRT10 may regulate the keratinization of horn buds.…”