Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis

• Published in: 罕见病研究
• Main Authors: LIU Juan, MO Ran, LIU Yihe, HUANG Xin, GAO Meng, YANG Yong, CHEN Zhiming
• Format: Article
• Language: Chinese
• Published: Editorial Office of Journal of Rare Diseases 2023-04-01
• Subjects: autosomal recessive congenital ichthyosis; cers3 gene; exon deletion; acitretin
• Online Access: https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.02.016
• ISSN: 2097-0501

Autosomal recessive congenital ichthyosis caused by CERS3 mutations is extremely rare in clinical practice. We recently identified a family of autosomal recessive congenital ichthyosis and performed multigene exome sequencing for hereditary skin diseases to identify causative genes. Mutation analysis revealed compound heterozygous mutations of c.746A>G(from the mother) and exon12 deletion(from the father)in CERS3 were detected in the proband, which were verified by Sanger sequencing and co-segregated with the ichthyosis phenotype in the proband and her parents. These mutations were both reported for the first time. For the treatment, the proband received an oral acitretin capsules of 20 mg once daily. After 3-month follow up, the patient's lesion improved significantly.