Autosomal recessive congenital ichthyosis caused by mutation of ALOXE3 gene
Objective:To determin the mutation of a patient with autosomal recessive ichthyosis and the ef-ficacy of 0.5%ceramide cream.Methods:The clinical data of the proband were collected and DNA was ex-tracted from the peripheral blood of the proband and his relatives,and high-throughput sequencing of relevant genes was performed using sequence capture technology,and the mutation sites were verified for one genera-tion.The proband was treated with topical 0.5%ceramide cream and followed up for 10 months.Results:The histopathology of the proband's skin lesions was consistent with the pathological changes of ichthyosis.Whole-genome exome sequencing and Sanger sequencing confirmed that the proband had compound heterozygous mu-tations in the ALOXE3 gene(missense variants c.1208A>G:p.H403R and a frameshift variant c.102dup:p.K35Qfs∗29).The mother(missense mutation c.1208A>G:p.H403R)and father(frameshift mutation c.102dup:p.K35Qfs∗29)of the proband were carriers of a single mutation,respectively.The proband was trea-ted with 0.5%ceramide cream for 10 months.The dry skin and brown scales were significantly improved.Conclusion:The compound heterozygous mutation of ALOXE3 gene may be the cause of this autosomal reces-sive ichthyosis and 0.5%ceramide cream is effective in treating this disease.
万方数据
维普
