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

Abstract

Disorders of sex development (DSD) are a group of conditions with strong clinical phenotype heterogeneity, and the incidence of DSD in the population is 1/5 000 to 1/4 500. 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.

Keywords

• disorders of sex development (dsd)
• 46,xy dsd
• dhx37 gene
• human disease