Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Jun 14:16:1515-1519.
doi: 10.2147/CCID.S415682. eCollection 2023.

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

Mengjun Xu  1 , Jiong Zhou  1 , Jianliang Yan  1 , Jianyou Wang  1
Affiliations
Case Reports

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

Mengjun Xu et al. Clin Cosmet Investig Dermatol. .

Abstract

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.

Keywords: ECM1; extracellular matrix protein 1; lipoid proteinosis; mutation.

PubMed Disclaimer

Conflict of interest statement

The authors declare that there is no conflict of interest.

Figures

Figure 1
Figure 1
Clinical sign of the proband and his sister. (A) beaded papules on both upper eyelids and (B) isolated papules on the lip of the proband. (C) papules on the eyelids and (D and E) mucosa infiltration of his sister.
Figure 2
Figure 2
Pedigree and sequencing results. (A) Pedigree of the family with two affected siblings. (B) Sanger validation of the ECM1 variants. II1: proband, II2: sister, I1: father, I2: mother.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Hofer PA. Urbach-wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A review. Acta Derm Venereol Suppl. 1973;53:1–52. - PubMed
    1. Hamada T, McLean WH, Ramsay M, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ecm1). Hum Mol Genet. 2002;11:833–840. doi:10.1093/hmg/11.7.833 - DOI - PubMed
    1. Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol. 2007;16:881–890. doi:10.1177/2050313X19850359 - DOI - PubMed
    1. Jahanimoghadam F, Hasheminejad J. Oral manifestations and dental management considerations of lipoid proteinosis: a case report and review of literature. J Dent. 2022;23:321–326. doi:10.30476/DENTJODS.2021.89748.1435 - DOI - PMC - PubMed
    1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17:405–424. doi:10.1038/gim.2015.30 - DOI - PMC - PubMed

Publication types