[Analysis of PNPLA1 gene mutation in a child with ichthyosis]

To explore the genetic basis for a child with ichthyosis.

High-throughput sequencing was carried out to detect genomic copy number variants (CNVs) and variant of the medical exome. Candidate variant was verified by Sanger sequencing.

No disease-related CNV was identified in the patient. High-throughput sequencing revealed that the child has carried compound heterozygous variants of the PNPLA1 gene, including a previously known pathogenic c.100G>A (p.Ala34Thr) mutation and a novel c.56C>A (p.Ser19x) variant which was predicted to be a pathogenic according to the ACMG guidelines. Sanger sequencing confirmed both variants in the child. Her father and mother were found to be heterozygous carriers for the c.56C>A (p.Ser19x) and c.100G>A (p.Ala34Thr) variants, respectively.

The compound heterozygous c.100G>A and c.56C>A variants of the PNPLA1 gene probably underlay the ichthyosis in this child.