Abstract: Objective: To identify the pathogenic gene in a female patient with autosomal recessive congenital ichthyosis and her family. Methods: Peripheral blood DNA was extracted from the proband, her mother, and her son for high-throughput whole-exome sequencing, and gene mutations were validated by Sanger sequencing. Results: The proband carries a heterozygous variant c.1318C＞Y p.(Arg440Ter) in the PNPLA1 gene; the proband’s mother and son show wild-type genotype at this locus. A heterozygous variant c.235G＞A p.(Val79Met) in the PNPLA1 gene is detected in the proband, his mother and his son. According to the ACMG variant classification criteria: the PNPLA1 variant c.131C＞T p.(Arg440Ter) is classified as a likely pathogenic variant, while the PNPLA1 variant c.235G＞A p.(Val79Met) is classified as a variant of uncertain significance (VUS). Conclusion: The pathogenic gene of this family is PNPLA1, and the possible cause of the disease in the proband is a mutation at the PNPLA1 c.1318C＞Yp. (Arg440Ter) locus.

Key words: PNPLA1, gene mutation, autosomal recessive congenital ichthyosis