摘要
Basan综合征是一种罕见的常染色体显性遗传的单基因遗传病,病因是外胚层发育不良。其典型临床表现包括:先天性指纹缺乏伴掌跖少汗症、短暂性先天性肢端大疱以及新生儿面部粟粒疹。Basan综合征与ADG可能属于同一疾病谱,通过总结Basan综合征与ADG的致病突变位点及基因突变类型,发现致病基因定位于4q22.3号染色体上的SMARCAD1基因,多数为单核苷酸颠换。SMARCAD 1基因属于SWI/SNF家族成员,是ATP依赖染色质重塑复合物的关键催化亚基,控制大量编码转录因子的表达、组蛋白修饰因子以及细胞周期和发育调节因子的靶基因的表达。SMARCAD1基因点突变会导致异常剪接,使mRNA降解变性,引起蛋白质表达量的减少,影响翻译的过程,从而导致表皮嵴的缺失。本文对Basan综合征及ADG临床特点、致病基因突变定位、致病基因机制及治疗作一综述。
Basan syndrome is a rare autosomal dominant monogenic disorder caused by ectodermal dysplasia.Typical clinical manifestations include:congenital absence of fingerprints with palmoplantar hypohidrosis,transient congenital acral bullae,and neonatal facial milia.Basan syndrome and ADG may belong to the same disease spectrum.By summarizing the pathogenic mutation sites and gene variant forms of Basan syndrome and ADG,it is found that the pathogenic gene is located in the SMARCAD1 gene on chromosome 4q22.3,most of which are single nucleotide transversion.The SMARCAD 1 gene,a member of the SWI/SNF family,is a key catalytic subunit of the ATP-dependent chromatin remodeling complex that controls the expression of a large number of target genes encoding transcription factors,histone modifiers,and cell cycle and developmental regulators.Point mutations in the SMARCD1 gene can lead to abnormal splicing,mRNA degradation and denaturation,resulting in decreased protein expression,affecting the process of translation,resulting in the loss of epidermal cristae.This article reviews the clinical characteristics,mutation location,mechanism and treatment of Basan syndrome and ADG.
作者
艾丽娅
韩建文
AI Liya;HAN Jianwen(Department of Dermatology,The Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010050,China)
出处
《内蒙古医科大学学报》
2022年第6期655-659,共5页
Journal of Inner Mongolia Medical University
基金
内蒙古科技计划项目(2019GG082)。
