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PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

Human genetics - 1 Apr 2023

Shamseldin Hanan E, Derar Nada, Alzaidan Hamad, AlHathal Naif, Alfalah Abdullah, Abdulwahab Firdous, Alzaid Tariq, Alkeraye Salim, Alobaida Saud A, Alkuraya Fowzan S

Abstract excerpt

Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in PRSS8 (encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site...

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PMID: 36715754
DOI: 10.1007/s00439-023-02527-3

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