A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient.
Lipoid proteinosis: Phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. Exp Dermatol 2015;24:220-2.
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
To obtain a definitive molecular confirmation of LP in this patient, we analyzed the ECM1 gene.
The first clinical manifestation is hoarseness of the cry or voice after birth, caused by infiltration of the vocal cords.[sup] LP is caused by loss-of-function mutations in ECM1 gene.[sup] The discovery of the mutations in ECM1 allows accurate diagnoses to be made using gene sequencing.
Figure 6 Simulated Building1 (Left) and Building2 (Right) ECM savings Baseline 71.7 ECM1
+ ECM2 66.6 ECM1
+ ECM2 + ECM3 64.6 ECM1
+ ECM 2 + ECM3 + ECM4 64.1 Baseline 67.3 Baseline with decrease of occupancy 65.3 ECM1
+ ECM2 62.2 ECM1
+ ECM 2 + ECM3 60.7 ECM1
+ ECM2 + ECM 3 + ECM4 60.7 Note: Table made from bar graph.
Ramsay et al., "Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)," Human Molecular Genetics, vol.
Oyama et al., "Interaction of extracellular matrix protein 1 with extracellular matrix components: ECM1 is a basement membrane protein of the skin," Journal of Investigative Dermatology, vol.
Recently, LP has been mapped to chromosome 1q21, and the locus for the extracellular matrix protein 1(ECM1) gene and six different loss-of-function mutations in the ECM1 gene have been identified in patients affected by LP (2) Notably, the ECM1 gene product is an 85-kDa glycoprotein of unknown function that is believed to affect keratinocyte differentiation, and it is possible that it has a role in cell-cell adhesion (10).
Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells.
The impact on the level of lagged variables can be represented by two cointegration vectors [L.sub.t] - 1.742[U.sub.t] and [I.sub.t] - 2.553[U.sub.t] denoted as ECM1
and ECM2, respectively.
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