PLACK syndrome caused by novel pathogenic variants in <i>CAST</i>: a case report and literature review-Reference-Cited by-同舟云学术

PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review

Published:2023-05-04 Issue:9 Volume:48 Page:1052-1055
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:

Author:

Hu Bin¹,Gong Zhuoqing²³^ORCID,Peng Sha²,Wang Huijin²^ORCID,Chen Liuqing¹,Lin Zhimiao²^ORCID

Affiliation:

1. Department of Dermatology, Wuhan No. 1 Hospital , Wuhan , China

2. Dermatology Hospital, Southern Medical University , Guangzhou , China

3. Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases , Beijing , China

Abstract

We report on a patient with PLACK syndrome carrying compound heterozygous novel variants in CAST, and provide a literature review. PLACK syndrome is an extremely rare skin disease with only 10 cases reported worldwide.

Funder

National Natural Science Foundation of China

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://academic.oup.com/ced/advance-article-pdf/doi/10.1093/ced/llad167/50682740/llad167.pdf

Reference5 articles.

1. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads;Lin;Am J Hum Genet,2015

2. Role of calpain in pathogenesis of human disease processes;Potz;J Nat Sci,2016

3. A novel homozygous nonsense mutation in CAST associated with PLACK syndrome;Temel;Cell Tissue Res,2019

4. PLACK syndrome shows remarkable phenotypic homogeneity;Mohamad;Clin Exp Dermatol,2019

5. PLACK syndrome is potentially treatable with intralipids;Sawan;Clin Genet,2021

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. 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;2023-05-23