机构：[1]Department of Dermatology, Beijing Children’s Hospital, Capital Medical University (National Center for Children’s Health, China), Beijing, China临床科室职能科室临床流行病与循证医学中心皮肤科首都医科大学附属北京儿童医院[2]Department of Pathology, Beijing Children’s Hospital, Capital Medical University (National Center for Children’s Health, China), Beijing, China医技科室职能科室病理科临床流行病与循证医学中心首都医科大学附属北京儿童医院
Ichthyosis hystrix, Curth-Macklin type (IHCM) is an extremely rare autosomal dominant dermatosis caused by mutations in KRT1 or KRT10, that often manifests as extensive, dark, spiky or verrucous plaques and severe palmoplantar keratoderma. We found a novel frameshift trucation mutation c.1596_1597insAT, p. Gly533Metfs*82 in exon7 (V2 tail domian) of KRT1, which replacing the glycine-serine-rich tail of KRT1 with the alanine-rich 75 amino acids, developed a mild IHCM phenotype. The patient presented with localized ichthyosis and progressive hyperkeratosis of the palms and soles with no blister history.
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基金：
This study was supported by the Special Fund of The Pediatric Medical Coordinated Development Center of Beijing Municipal Administration (no. XTZD20180502) and the National Natural Science Foundation of China (no. 81673042).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2019]版：
大类|4 区医学
小类|4 区皮肤病学
最新[2023]版：
大类|4 区医学
小类|4 区皮肤病学
第一作者：
第一作者机构：[1]Department of Dermatology, Beijing Children’s Hospital, Capital Medical University (National Center for Children’s Health, China), Beijing, China
通讯作者：
通讯机构：[1]Department of Dermatology, Beijing Children’s Hospital, Capital Medical University (National Center for Children’s Health, China), Beijing, China[2]Department of Pathology, Beijing Children’s Hospital, Capital Medical University (National Center for Children’s Health, China), Beijing, China
推荐引用方式(GB/T 7714)：
Yang Z,Xu Z,Zhang N,et al.A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes a mild ichthyosis hystrix of Curth-Macklin.[J].Clinical and experimental dermatology.2020,doi:10.1111/ced.14193.
APA：
Yang Z,Xu Z,Zhang N&Ma L.(2020).A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes a mild ichthyosis hystrix of Curth-Macklin..Clinical and experimental dermatology,,
MLA：
Yang Z,et al."A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes a mild ichthyosis hystrix of Curth-Macklin.".Clinical and experimental dermatology .(2020)
