南方科技大学知识苑(SUSTech KC): Symmetrical acral keratoderma associated with new variants in the filaggrin gene

题名	Symmetrical acral keratoderma associated with new variants in the filaggrin gene
作者	Luo, Wanting 1,2; Lu, Qiaoyun 3; Jiang, Yangyang 1,2; Dong, Wenwu 1,2; Lin, Zhimiao 4; Wang, Huijun 4; Yang, Fang1,2
通讯作者	Wang, Huijun; Yang, Fang
发表日期	2024-08-01
DOI	10.1684/ejd.2024.4740
发表期刊	EUROPEAN JOURNAL OF DERMATOLOGY 影响因子和分区
ISSN	1167-1122
EISSN	1952-4013
卷号	34 期号:4
摘要	Background: : Symmetrical acral keratoderma (SAK) is a rare skin disorder with symmetric hyperkeratotic patches on the acral regions. Variants in the filaggrin gene ( FLG ) have been associated with SAK since 2020. Objectives: : To explore the clinical and genetic basis in six patients with SAK. Materials & Methods: : Whole-exome sequencing, direct sequencing, and prediction of protein structure and function were performed. Results: : In this study, we identified two novel variants, c.3320del and c.4909del, and seven previously reported variants, c.3099C>G, c.4544C>A, c.6950_6957del, c.7264G>T, c.7945del, c.8117C>G, c.12064A>T. Conclusion: : The findings of this study bolster the existing evidence implicating FLG variants in SAK, introducing two novel variants to the database of FLG variants associated with the condition.
关键词	symmetrical acral keratoderma filaggrin variant
相关链接	[来源记录]
收录类别	SCI
语种	英语
学校署名	通讯
资助项目	National Natural Science Foundation of China["82203941","82373500"] ; Shenzhen Science and Technology Innovation Committee[JCYJ 202205301518150]
WOS研究方向	Dermatology
WOS类目	Dermatology
WOS记录号	WOS:001321313900010
出版者	JLE
来源库	Web of Science
引用统计
成果类型	期刊论文
条目标识符	http://sustech.caswiz.com/handle/2SGJ60CL/834304
专题	南方科技大学第一附属医院
作者单位	1.Jinan Univ, Shenzhen Peoples Hosp, Clin Med Coll 2, Guangzhou, Peoples R China 2.Southern Univ Sci & Technol, Affiliated Hosp 1, Candidate Branch Natl Clin Res Ctr Skin Dis, Shenzhen, Peoples R China 3.Hubei Univ Arts & Sci, Xiangyang Cent Hosp, Affiliated Hosp, Hubei, Peoples R China 4.Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China
第一作者单位	南方科技大学第一附属医院
通讯作者单位	南方科技大学第一附属医院
推荐引用方式 GB/T 7714	Luo, Wanting,Lu, Qiaoyun,Jiang, Yangyang,et al. Symmetrical acral keratoderma associated with new variants in the filaggrin gene[J]. EUROPEAN JOURNAL OF DERMATOLOGY,2024,34(4).
APA	Luo, Wanting.,Lu, Qiaoyun.,Jiang, Yangyang.,Dong, Wenwu.,Lin, Zhimiao.,...&Yang, Fang.(2024).Symmetrical acral keratoderma associated with new variants in the filaggrin gene.EUROPEAN JOURNAL OF DERMATOLOGY,34(4).
MLA	Luo, Wanting,et al."Symmetrical acral keratoderma associated with new variants in the filaggrin gene".EUROPEAN JOURNAL OF DERMATOLOGY 34.4(2024).