Whole exom sequencing of a Lipoid proteinosis patient

Lipoid proteinosis is a rare autosomal recessive disorder that is caused by loss-of-function mutations in the extracellular matrix protein 1 gene. The disease is characterized by cutaneous and mucosal lesions, beaded eyelid papules and hoarseness appearing in early childhood. Waxy papules and plaques develop progressively over several years on the face, scalp, neck, and extremities. Approximately 400 cases have been reported in the world literature till 2015. The disease occurs worldwide but it is more common in some geographical areas, such as parts of South Africa and Turkey. As patients present with considerable clinical variability, this group of patients offers a unique opportunity for genotype phenotype correlation. This study identifies novel mutations of the patients exome, contributing to recent advances in our understanding of the molecular genetics underlying this disease.