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- Title
A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis.
- Authors
Chenyu Zhao; Yonggui Li; Gaoxing Shi; Xiaoliu Shi; Guiying Zhang
- Abstract
Epidermolytic hyperkeratosis (EHK) is a rare genodermatosis whose prevalence is less than 1 in 100,000. Mutations in either the keratin 1 or keratin 10 genes lead to EHK characterized by congenital erythema and epidermal blisters at birth, followed by hyperkeratotic skin lesions with age. We here report a 1-and-a-half-year-old male infant with EHK caused by a novel mutation, c.479A>G, g.489A>G, p. Y160C, of the keratin 10 gene. Mutation at this position has been reported previously, but the type of amino acid change was different. These results expand the database of keratin 10 gene mutations.
- Subjects
KERATIN; INFANTS; SKIN aging; GENES; AMINO acids
- Publication
Turkish Journal of Pediatrics, 2018, Vol 60, Issue 4, p426
- ISSN
0041-4301
- Publication type
Article
- DOI
10.24953/turkjped.2018.04.011