A Novel Nonsense Mutation in Exon 9 in the Extracellular Matrix Protein 1 Gene Associated with Lipoid Proteinosis: A Case Report

Overview

Journal SAGE Open Med Case Rep

Publisher Sage Publications

Specialty General Medicine

Date 2019 Jun 18

PMID 31205714

Authors

Feras M Ghazawi

Etienne Saint-Cyr Proulx

Fatemeh Jafarian

Affiliations

Soon will be listed here.

Abstract

Lipoid proteinosis is a rare autosomal recessive genodermatosis that is caused by loss-of-function mutations in the extracellular matrix protein 1 gene. This study identifies a novel nonsense mutation in exon 9 of the extracellular matrix protein 1 gene associated with lipoid proteinosis, contributing to recent advances in our understanding of the molecular genetics underlying this disease. It is important to identify the mutations in the extracellular matrix protein 1 gene that are associated with lipoid proteinosis and how these affect protein function. Understanding the molecular basis for such genetic disorders may lead to novel therapeutic approaches for treating hereditary genodermatoses.

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