JOURNAL ARTICLE

A patient with PLACK syndrome with a novel splicing mutation in CAST: the evidence for a loss-of-function mechanism through mis-splicing.

  • Published In: Clinical & Experimental Dermatology, 2023, v. 48, n. 10. P. 1160 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Mamivand, Ali; Zekri, Ali; Maghrouni, Abolfazl; Bayat, Shiva; Mirzaei, Ebrahim; Javadi Golroodbari, Fatemeh; Mousavi, Seyed Mohammad; Behrangi, Elham; Tabrizi, Mina 3 of 3

Abstract

This article focuses on a novel intronic splice-site mutation in the CAST gene identified in a 5-year-old boy with PLACK syndrome, a rare autosomal recessive genodermatosis characterized by peeling skin, leuconychia, acral punctate keratoses, cheilitis, and knuckle pads. The mutation (c.1209+2T>G) leads to abnormal mRNA splicing, causing a frameshift and premature truncation of the calpastatin protein via nonsense-mediated decay, supporting a loss-of-function pathogenic mechanism. The study also reports, for the first time, an association of PLACK syndrome with sudden cardiac death (SCD) in affected family members, although the direct link remains unclear and may involve additional genetic factors. This research expands the genotypic and phenotypic spectrum of PLACK syndrome and underscores the importance of CAST in its molecular pathogenesis.

Additional Information

  • Source:Clinical & Experimental Dermatology. 2023/10, Vol. 48, Issue 10, p1160
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2023
  • ISSN:0307-6938
  • DOI:10.1093/ced/llad185
  • Accession Number:173097467
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