A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family

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 clini...

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Bibliographic Details
Published inClinical and experimental dermatology Vol. 40; no. 8; pp. 879 - 882
Main Authors Ji, Y. Z., Bai, Y., Wang, S., Li, F. Q.
Format Journal Article
LanguageEnglish
Published England Blackwell Publishing Ltd 01.12.2015
Oxford University Press
Subjects
Adolescent
Adult
Asian Continental Ancestry Group - genetics
China
Codon - genetics
Female
Genes
Humans
Hyperkeratosis, Epidermolytic - genetics
Keratin-1 - genetics
Male
Middle Aged
Mutation
Young Adult
China
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Summary: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 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.
Bibliography:istex:3CF429E0803EC32D66051156D1B9B339B87C8D8C
ark:/67375/WNG-NBRC331T-7
ArticleID:CED12649
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0307-6938
1365-2230
DOI:10.1111/ced.12649