Identification of causative variants of ichthyosis in a Lorestan family by whole-exome sequencing: A case report

Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic keratinization disorder that interferes with the normal metabolism of epidermal lipids. This leads to impaired stratum corneum function and compromised barrier permeability. Mutations in the PNPLA۱ gene contribute to abnormalities in the composition and structure of epidermal lipids, resulting in defective synthesis of epidermal lipids and impaired formation of the keratinized layer in the stratum corneum of affected individuals. In this study, clinical analysis and whole-exome sequencing (WES) were performed on a patient suspected of having ichthyosis. We identified a homozygous missense mutation at Chr۶-۳۶۲۶۰۸۶۸ T>C NM_۰۰۱۳۷۴۶۲۳.۱ :Exon۳: c.۴۶۹T>C p.Tyr۱۵۷His of the PNPLA۱ gene in a ۳۲-year-old Iranian female patient. This study provides a novel mutation for PNPLA۱ in ARCI disease, which can contribute to appropriate clinical-genetic diagnosis, proper genotype-phenotype correlation, and research on the pathogenesis of ichthyosis and genetic therapy.

کلیدواژه ها:

PNPLA۱ gene ، Autosomal recessive congenital ichthyosis (ARCI) ، whole genome sequencing