Research progress on ARX gene mutations and related diseases

Abstract

ARX (aristaless- related homeobox ) gene is located on the short arm of the human X chromosome (Xp22.13 ).It contains five exons and encodes ARX protein,which contains 562 amino acids and regulates the brain development as a protein transcription factor.ARX gene mutations are associated with many diseases,such as X-linked Infantile Spasms Syndrome,X-linked myoclonic epilepsy with spasticity and intellectual disability,non-specific X-linked mental retardation,early infantile myoclonic encephalopathy,Partington syndrome,Proud syndrome,and hydranencephaly with ambiguous genitalia,etc.Currently there are a large number of case reports and studies on the ARX gene mutation and its related Key words: ARX ; Genotype ; Phenotype ; Mutation ; X-linked ; Animal model ;