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

Clinical and experimental dermatology - 19 Sept 2023

Mamivand Ali, Zekri Ali, Maghrouni Abolfazl, Bayat Shiva, Mirzaei Ebrahim, Javadi Golroodbari Fatemeh, Mousavi Seyed Mohammad, Behrangi Elham, Tabrizi Mina

Abstract excerpt

PLACK syndrome is a relatively recently defined generalized peeling skin syndrome that has been reported with major skin manifestations and sometimes atypical features. We report the case of a 5-year-old boy with PLACK manifestations. Whole exome sequencing and subsequent Sanger sequencing identified a putative splice variant c.1209+2T>G in CAST (NM_001042440.5). Moreover, mRNA sequencing confirmed the abnormal...

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PMID: 37221445
DOI: 10.1093/ced/llad185

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