中国常染色体隐性掌跖角化过度症患者中 SERPINA12 的新型和创始变体。
Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma.
机构信息
Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
Department of Dermatology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
出版信息
Br J Dermatol. 2022 Aug;187(2):267-270. doi: 10.1111/bjd.21064. Epub 2022 May 6.
PMID:35199331
Abstract
- We extend the spectrum of SERPINA12 variants in palmoplantar keratodermas. 2. The recurrent variant c.970_971del, mainly prevalent in the East Asia population, was proved to be a founder variant. 3. Considerable SERPINA12-related palmoplantar keratoderma patients could be identified from autosomal recessive, non-mutilating, diffused palmoplantar keratoderma patients. 4. Other serpin family members or their co-effect may participate in the etiologies of underexplored hereditary palmoplantar keratodermas.
摘要
我们扩展了掌跖角化病中 SERPIA12 变异体的谱。
主要在东亚人群中流行的反复出现的变异 c.970_971del 被证实是一个起始变异。
可以从常染色体隐性、非破坏性、弥漫性掌跖角化病患者中鉴定出相当数量的 SERPINA12 相关掌跖角化病患者。
其他丝氨酸蛋白酶家族成员或其共同作用可能参与了尚未充分研究的遗传性掌跖角化病的发病机制。
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