A Patient With Plack Syndrome With a Novel Splicing Mutation in Cast: The Evidence for a Loss-Of-Function Mechanism Through Mis-Splicing

A Patient With Plack Syndrome With a Novel Splicing Mutation in Cast: The Evidence for a Loss-Of-Function Mechanism Through Mis-Splicing Publisher Pubmed

Mamivand A¹ ; Zekri A^{2, 3} ; Maghrouni A¹ ; Bayat S¹ ; Mirzaei E³ ; Golroodbari FJ³ ; Mousavi SM³ ; Behrangi E⁴ ; Tabrizi M¹

Show Affiliations

1. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
2. Physiology Research Center, Iran University of Medical Sciences, Tehran, Iran
3. Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
4. Department of Dermatology, Rasool Akram Medical Complex Clinical Research Development Center (RCRDC), School of Medicine, Iran University of Medical Sciences, Tehran, Iran

Source: Clinical and Experimental Dermatology Published:2023

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. © The Author(s) 2023. Published by Oxford University Press on behalf of British Association of Dermatologists. All rights reserved.

Style	Citing Format
MLA	Mamivand A, et al.. "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, vol. 48, no. 10, 2023, pp. 1160-1164.
APA	Mamivand A, Zekri A, Maghrouni A, Bayat S, Mirzaei E, Golroodbari FJ, Mousavi SM, Behrangi E, Tabrizi M (2023). 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, 48(10), 1160-1164.
Chicago	Mamivand A, Zekri A, Maghrouni A, Bayat S, Mirzaei E, Golroodbari FJ, Mousavi SM, Behrangi E, Tabrizi M. "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 48, no. 10 (2023): 1160-1164.
Harvard	Mamivand A et al. (2023) '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, 48(10), pp. 1160-1164.
Vancouver	Mamivand A, Zekri A, Maghrouni A, Bayat S, Mirzaei E, Golroodbari FJ, et al.. 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. 2023;48(10):1160-1164.
BibTex	@article{ author = {Mamivand A and Zekri A and Maghrouni A and Bayat S and Mirzaei E and Golroodbari FJ and Mousavi SM and Behrangi E and Tabrizi M}, title = {A Patient With Plack Syndrome With a Novel Splicing Mutation in Cast: The Evidence for a Loss-Of-Function Mechanism Through Mis-Splicing}, journal = {Clinical and Experimental Dermatology}, volume = {48}, number = {10}, pages = {1160-1164}, year = {2023} }
RIS	TY - JOUR AU - Mamivand A AU - Zekri A AU - Maghrouni A AU - Bayat S AU - Mirzaei E AU - Golroodbari FJ AU - Mousavi SM AU - Behrangi E AU - Tabrizi M TI - A Patient With Plack Syndrome With a Novel Splicing Mutation in Cast: The Evidence for a Loss-Of-Function Mechanism Through Mis-Splicing JO - Clinical and Experimental Dermatology VL - 48 IS - 10 SP - 1160 EP - 1164 PY - 2023 ER -

Science Communicator Platform

Authors

Authors Affiliations

Abstract