Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis

Abstract

Hamada [2] identified the genetic defect to be a loss-of-function mutation or reduced expression of the gene encoding extracellular matrix protein 1 (ECM1) on chromosome 1q21 in 2002. {Figure 1} The histology results showed hyaline materials deposited mainly in the papillary dermis and around blood vessels, sweat duct, hair follicles, and muscle nap, those were positive for periodic acid-Schiff (PAS) staining [Supplementary Figure 1] [SUPPORTING:1]. [5] Gene sequencing can improve diagnostic accuracy and offer a less invasive diagnostic test than a skin biopsy. The human extracellular matrix gene 1 (ECM1): Genomic structure, cDNA cloning, expression pattern, and chromosomal localization. Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730; Department of Medical Genetics, McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical...