Advances in the Research of X-Linked Recessive lchthyosis Caused-gene Mutations

Abstract

X-linked recessive ichthyosis(XLRI)is a genetic disorder of keratinization characterized by neurosis cutis and generalized desquamation of large,adherent,dark brown scales.Extracutaneous manifestations include corneal opacity and cryptorchidism.Since 1978,it has been known that a deficit in steroid sulphatase enzyme(STS)is responsible for XLRI.The STS gene has been mapped to XP22.3,the dislal part of the short alrln of the X chromosome.This region escapes X chromosome inactivation and has the hishest ratio of chromommal deletions.About 90%of patients have complete STS gene deletion.Diagnosis of male patients with X-linked ichthyosis and female carriers is based on biochemical and genetic analysis.Many studies about molecular genetics in XLRI have been performed.This review will summarize the advancement in the STS gene mutations and gene diagnosis of XLRI. Key words: X-Linked recessive iehthyosis; Steroid sulphatase; Gene deletion