Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis

Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in skin. Whole-exome sequencing (WES) was used to investigate two Chinese siblings with suggestive clinical features of LP. They shared one known (c.9...

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Autores principales: Xu, Mengjun, Zhou, Jiong, Yan, Jianliang, Wang, Jianyou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277017/
https://www.ncbi.nlm.nih.gov/pubmed/37337569
http://dx.doi.org/10.2147/CCID.S415682
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author Xu, Mengjun
Zhou, Jiong
Yan, Jianliang
Wang, Jianyou
author_facet Xu, Mengjun
Zhou, Jiong
Yan, Jianliang
Wang, Jianyou
author_sort Xu, Mengjun
collection PubMed
description Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in skin. Whole-exome sequencing (WES) was used to investigate two Chinese siblings with suggestive clinical features of LP. They shared one known (c.960G>A) and one novel (c.1081G>T) pathogenic variant in ECM1 gene, inherited from their unaffected parents. The novel mutation (c.1081G>T) led to a termination codon at position 361 and caused nonsense-mediated mRNA decay and lost the function. Our finding expands the genetic etiology spectrum of LP.
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spelling pubmed-102770172023-06-19 Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis Xu, Mengjun Zhou, Jiong Yan, Jianliang Wang, Jianyou Clin Cosmet Investig Dermatol Case Report Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in skin. Whole-exome sequencing (WES) was used to investigate two Chinese siblings with suggestive clinical features of LP. They shared one known (c.960G>A) and one novel (c.1081G>T) pathogenic variant in ECM1 gene, inherited from their unaffected parents. The novel mutation (c.1081G>T) led to a termination codon at position 361 and caused nonsense-mediated mRNA decay and lost the function. Our finding expands the genetic etiology spectrum of LP. Dove 2023-06-14 /pmc/articles/PMC10277017/ /pubmed/37337569 http://dx.doi.org/10.2147/CCID.S415682 Text en © 2023 Xu et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
spellingShingle Case Report
Xu, Mengjun
Zhou, Jiong
Yan, Jianliang
Wang, Jianyou
Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis
title Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis
title_full Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis
title_fullStr Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis
title_full_unstemmed Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis
title_short Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis
title_sort identification of a novel mutation of extracellular matrix protein 1 gene in a chinese family with lipoid proteinosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277017/
https://www.ncbi.nlm.nih.gov/pubmed/37337569
http://dx.doi.org/10.2147/CCID.S415682
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