Zhao Chenyu, Li Yonggui, Shi Gaoxing, Shi Xiaoliu, Zhang Guiying
Departments of Gastroenterology, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Departments of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Turk J Pediatr. 2018;60(4):426-428. 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.
赵C、李Y、石G、石X、张G。一名患有表皮松解性角化过度症的中国男婴中角蛋白10基因的新型Y160C突变。《土耳其儿科学杂志》2018年；60：426 - 428。表皮松解性角化过度症（EHK）是一种罕见的遗传性皮肤病，其患病率低于十万分之一。角蛋白1或角蛋白10基因的突变会导致EHK，其特征为出生时先天性红斑和表皮水疱，随后随着年龄增长出现角化过度性皮肤病变。我们在此报告一名1岁半的男婴，其EHK由角蛋白10基因的新型突变c.479A > G、g.489A > G、p.Y160C引起。该位置的突变先前已有报道，但氨基酸变化类型不同。这些结果扩展了角蛋白10基因突变数据库。
