The Turkish Journal of Pediatrics 2018 , Vol 60 , Num 4
A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis
Chenyu Zhao 1 ,Yonggui Li 1 ,Gaoxing Shi 2 ,Xiaoliu Shi 1-2 ,Guiying Zhang 3
1 Departments of Gastroenterology, The Second Xiangya Hospital of Central South University, Changsha, 410011, China
2 Departments of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, 410011, China
3 Departments of Dermatology, The Second Xiangya Hospital of Central South University, Changsha, 410011, China
DOI : 10.24953/turkjped.2018.04.011 Zhao C, Li Y, Shi G, Shi X, Zhang G. A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis. Turk J Pediatr 2018; 60: 426-428.

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. Keywords : hyperkeratosis, epidermolytic, genodermatosis, keratin-10, mutation

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