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

Abstract 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...

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Published in:Clinical and experimental dermatology 2023-09, Vol.48 (10), p.1160-1164
Main Authors: Mamivand, Ali, Zekri, Ali, Maghrouni, Abolfazl, Bayat, Shiva, Mirzaei, Ebrahim, Javadi Golroodbari, Fatemeh, Mousavi, Seyed Mohammad, Behrangi, Elham, Tabrizi, Mina
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container_issue 10
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container_title Clinical and experimental dermatology
container_volume 48
creator Mamivand, Ali
Zekri, Ali
Maghrouni, Abolfazl
Bayat, Shiva
Mirzaei, Ebrahim
Javadi Golroodbari, Fatemeh
Mousavi, Seyed Mohammad
Behrangi, Elham
Tabrizi, Mina
description Abstract 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 alternative splicing of the CAST gene, leading to the addition of one nucleotide to the correct open-reading frame at the mRNA level. Segregation and expression analysis revealed that this loss-of-function via mRNA nonsense-mediated decay could be the causative pathogenic mechanism responsible for this patient’s phenotype. This study extends our understanding of the various phenotypic and genotypic features of PLACK syndrome.
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title A patient with PLACK syndrome with a novel splicing mutation in CAST : the evidence for a loss-of-function mechanism through mis-splicing
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