DHX37基因在性发育异常中作用的研究进展  

Research progress in the role of DHX37 gene in disorders of sex development

作　　者：刘蓓 贺静 LIU Bei;HE Jing(The Affiliated Hospital of Kunming University of Science and Technology,Department of Medical Genetics,The First People's Hospital of Yunnan Province,Kunming 650032,China)

机构地区：[1]昆明理工大学附属医院,云南省第一人民医院医学遗传科,昆明650032

出　　处：《上海交通大学学报（医学版）》2024年第11期1466-1471,共6页Journal of Shanghai Jiao tong University:Medical Science

基　　金：云南省技术创新人才培养项目(2019HB071)。

摘　　要：性发育异常(disorders of sex development,DSD)是一类临床表型异质性很强的疾病,患病率为1/5000~1/4500。根据国际分类标准,按照染色体核型分类,DSD分为性染色体DSD、46,XY DSD和46,XX DSD,仅35%~45%的46,XY DSD患者和10%的46,XX DSD患者的病因能够明确。DSD的表型和致病机制仍然是目前的研究热点。DEAH-box解旋酶37(DEAH-box helicase 37,DHX37)基因是2019年新发现的性发育异常候选致病基因。近年来,研究者们证实了DHX37基因的变异与46,XY DSD疾病有着密切的联系。DHX37基因作为基因组中最保守的基因之一,其诊断较为困难,并且DHX37基因如何导致46,XY DSD疾病的分子机制尚不清楚。近年来,许多研究者通过全外显子组基因测序技术筛选出DHX37基因的变异位点并对其致病机制进行深入研究,扩展了有关性发育异常的遗传图谱。该文综述了DHX37基因的结构与功能,DHX37基因变异引起的临床表型和DSD的致病机制,以及DHX37基因变异在核糖体病背景下的致病机制。Disorders of sex development(DSD)are a group of conditions with strong clinical phenotype heterogeneity,and the incidence of DSD in the population is 1/5000 to 1/4500.According to the international classification standards,DSD is divided into sex chromosome DSD,46,XY DSD and 46,XX DSD according to chromosomal karyotype.Only 35%‒45%of patients with 46,XY DSD and 10%of those with 46,XX DSD have definite etiologies.So far,the phenotype and pathogenic mechanism of DSD are still the focus of research.DEAH-box helicase 37(DHX37)is a novel candidate pathogenic gene for DSD,first identified in 2019.In recent years,researchers have confirmed that DHX37 gene variants are closely related to 46,XY DSD.DHX37 gene is one of the most conserved genes across genomes,making its genetic diagnosis difficult,and the molecular mechanism in causing 46,XY DSD is still unclear.In recent years,many researchers have screened the variation sites of the DHX37 gene by whole exome sequencing(WES)technology and explored its pathogenic mechanisms,which has expanded the genetic map of DSD.This article reviews the relationship between the structure and function of the DHX37 gene,the pathogenic mechanisms of clinical phenotypes and DSD caused by DHX37 gene variants.It also discusses the pathogenic mechanisms of human diseases in the context of ribosomal-related diseases caused by DHX37 gene variants.

关 键 词：性发育异常 46 XY DSD DHX37基因 人类疾病 

分 类 号：R588.1[医药卫生—内分泌]