Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene Retraction in /10.3892/mmr.2019.9925

Gao,Dong; Ma,Xianying; Lian,Peiwen; Zhou,Surong; Chen,Jian

doi:10.3892/mmr.2018.8928

Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene

Retraction in: /10.3892/mmr.2019.9925

Authors:
- Dong Gao
- Xianying Ma
- Peiwen Lian
- Surong Zhou
- Jian Chen
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Affiliations: Department of Dermatology, Yantai Yuhuangding Hospital, Yantai, Shandong 264000, P.R. China, Department of Information, Yantai Yuhuangding Hospital, Yantai, Shandong 264000, P.R. China, Department of Laboratory and Oncology, Yantai Yuhuangding Hospital, Yantai, Shandong 264000, P.R. China
Published online on: April 24, 2018 https://doi.org/10.3892/mmr.2018.8928
Pages: 8087-8090

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Abstract

Lipoid proteinosis (LP) is a rare form of dermatosis with autosomal recessive inheritance. The present study hypothesized that an extracellular matrix protein 1 (ECM1) gene mutation forms the pathological basis of LP. The association between ECM1 mutation and LP; however, requires further investigation and was thus investigated in the present study. Injury skin tissue samples from patients with LP were collected, along with venous blood samples for genomic DNA extraction. Immunohistochemical staining was performed. Polymerase chain reaction (PCR) was then used to obtain an ECM1 gene fragment, which was sequenced and compared with healthy individuals. Histopathological examination revealed that all included patients fitted the features of LP and PCR amplification of the ECM1 gene in all patients obtained positive results. Patients with LP in the present study exhibited point mutations in the ECM1 gene, including one homozygous mutation (C220G) as previously reported, and one novel homozygous mutation c.508insCTG and two heterozygous mutations (C220G/P.R481X and c507delT/c.l473delT). LP is correlated with ECM1 gene mutation.

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1	Urbach E and Weithe C: Lipoidosis cutis et mucosae. Virchows Arch Path Anat. 273:285–319. 1929. View Article : Google Scholar
2	Çalıskan E, Açıkgöz G, Tunca M, Koç E, Arca E and Akar A: Treatment of lipoid proteinosis with ablative Er:YAG laser resurfacing. Dermatol Ther. 28:291–295. 2015. View Article : Google Scholar : PubMed/NCBI
3	Antoon JW, Hernandez ML, Roehrs PA, Noah TL, Leigh MW and Byerley JS: Endogenous lipoid pneumonia preceding diagnosis of pulmonary alveolar proteinosis. Clin Respir J. 10:246–249. 2016. View Article : Google Scholar : PubMed/NCBI
4	Bakry OA, Samaka RM, Houla NS and Basha MA: Two Egyptian cases of lipoid proteinosis successfully treated with acitretin. J Dermatol Case Rep. 8:29–34. 2014. View Article : Google Scholar : PubMed/NCBI
5	Tewari A, Fassihi H, McGibbon D, Robson A and Sarkany R: A case of extensive hyaline deposition in facial skin caused by erythropoietic protoporphyria. Br J Dermatol. 171:412–414. 2014. View Article : Google Scholar : PubMed/NCBI
6	Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, et al: Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet. 11:833–840. 2002. View Article : Google Scholar : PubMed/NCBI
7	Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, et al: Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol. 120:345–350. 2003. View Article : Google Scholar : PubMed/NCBI
8	Izadi F, Mahjoubi F, Farhadi M, Kalayinia S, Bidmeshkipour A, Tavakoli MM and Samanian S: Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis. Indian J Med Res. 143:303–307. 2016. View Article : Google Scholar : PubMed/NCBI
9	Freedman BR, Bade ND, Riggin CN, Zhang S, Haines PG, Ong KL and Janmey PA: The (dys)functional extracellular matrix. Biochim Biophys Acta. 1853:3153–3164. 2015. View Article : Google Scholar : PubMed/NCBI
10	Kim SH, Turnbull J and Guimond S: Extracellular matrix and cell signalling: The dynamic cooperation of integrin, proteoglycan and growth factor receptor. J Endocrinol. 209:139–151. 2011. View Article : Google Scholar : PubMed/NCBI
11	Silver FH, DeVore D and Siperko LM: Invited review: Role of mechanophysiology in aging of ECM: Effects of changes in mechanochemical transduction. J Appl Physiol (1985). 95:2134–2141. 2003. View Article : Google Scholar : PubMed/NCBI
12	Watt FM and Fujiwara H: Cell-extracellular matrix interactions in normal and diseased skin. Cold Spring Harb Perspect Biol. 3:a0051242011. View Article : Google Scholar : PubMed/NCBI
13	Blanpain C and Fuchs E: Epidermal stem cells of the skin. Annu Rev Cell Dev Biol. 22:339–373. 2006. View Article : Google Scholar : PubMed/NCBI
14	Mahdieh N and Rabbani B: An overview of mutation detection methods in genetic disorders. Iran J Pediatr. 23:375–388. 2013.PubMed/NCBI
15	Kaindl T, Rieger H, Kaschel LM, Engel U, Schmaus A, Sleeman J and Tanaka M: Spatio-temporal patterns of pancreatic cancer cells expressing CD44 isoforms on supported membranes displaying hyaluronic acid oligomers arrays. PloS One. 7:e429912012. View Article : Google Scholar : PubMed/NCBI
16	Bai X, Liu JW and Ma DL: Novel mutations in extracellular matrix protein 1 gene in a chinese patient with lipoid proteinosis. Chin Med J (Engl). 129:2765–2766. 2016. View Article : Google Scholar : PubMed/NCBI
17	Gutte R, Sanghvi S, Tamhankar P and Khopkar U: Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions. Indian Dermatol Online J. 3:148–149. 2012. View Article : Google Scholar : PubMed/NCBI
18	Lajunen TK, Purhonen AK, Haapea M, Ruokonen A, Puukka K, Hartikainen AL, Savolainen MJ, Morin-Papunen L, Tapanainen JS, Franks S, et al: Full-length visfatin levels are associated with inflammation in women with polycystic ovary syndrome. Eur J Clin Invest. 42:321–328. 2012. View Article : Google Scholar : PubMed/NCBI
19	Samdani AJ, Azhar A, Shahid SM, Nawab SN, Shaikh R, Qader SA, Mansoor Q, Khoso BK and Ismail M: Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis. J Dermatol Case Rep. 4:66–70. 2010.PubMed/NCBI
20	Schuler GD: Sequence alignment and database searching. Methods Biochem Anal. 39:145–171. 1998.PubMed/NCBI
21	Chelvan HT, Narasimhan M, Subramanian Shankaran A and Subramaniam S: Lipoid proteinosis presenting with an unusual nonsense Q32X mutation in exon 2 of the extracellular matrix protein 1 gene. Australas J Dermatol. 53:e79–e82. 2012. View Article : Google Scholar : PubMed/NCBI
22	Xu W, Wang L and Zhang L, Han DM and Zhang L: Otolaryngological manifestations and genetic characteristics of lipoid proteinosis. Ann Oto Rhinol Laryngol. 119:767–771. 2010.
23	Rizzo R, Ruggieri M, Micali G, Tinè A, Sanfilippo S and Pavone L: Lipoid proteinosis: A case report. Pediatr Dermatol. 14:22–25. 1997. View Article : Google Scholar : PubMed/NCBI