Abstract: Objective: To detect genetic mutations in a family with autosomal recessive congenital ichthyosis. Methods: DNA was extracted from the peripheral blood of the patient, his parents and 100 healthy controls. Next-generation high-throughput sequencing was performed to identify mutation sites of the proband's DNA, and which were verified by Sanger sequencing in both the proband and the parents. Results: The compound heterozygous mutations of c.1208A>G (p.His403Arg) and c.1131del (p.Ile378Sfs*70) in the ALOXE3 gene were identified in the patient, the mother was found to have heterozygous variation of c.1208A>G (p.His403Arg), while the father was discovered with heterozygous variation of c.1131del (p.Ile378Sfs*70). The mutation of c.1131del was reported for the first time. None of the 100 healthy controls had the same mutation. Conclusion: Compound heterozygous mutations c.1208A>G and c.1131del in the ALOXE3 gene were identified in a patient of autosomal recessive congenital ichthyosis with mild manifestations. The missense mutation c.1208A>G is speculated to contribute to the milder clinical phenotype in the patient. This newly mutation of c.1131del in the ALOXE3 gene enriches the spectrum of autosomal recessive congenital ichthyosis.

Key words: autosomal recessive congenital ichthyosis, ALOXE3 gene, compound heterozygous mutation