PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis
Shamseldin H, Derar N, Alzaidan H, AlHathal N, Alfalah A, Abdulwahab F, Alzaid T, Alkeraye S, Alobaida S, Alkuraya F. PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis. Human Genetics 2023, 142: 477-482. PMID: 36715754, DOI: 10.1007/s00439-023-02527-3.Peer-Reviewed Original ResearchConceptsCanonical splice sitesAssociated with reduced abundanceDeleterious variantsLinkage locusSplice siteNormal transcriptionMissense variantsExome sequencingConsanguineous familyAutosomal recessive ichthyosisRecessive ichthyosisPRSS8VariantsKnockout miceCongenital ichthyosisExomeProstasinSkin histopathologyHuman patientsMissenseScaly skinLociIchthyosisTranscriptionFamily