A Sporadic Family of Lipoid Proteinosis with Novel ECM1 Gene Mutations

Abstract

Yu-Ling Liu, Zeng-Yun-Ou Zhang, Xiao-Mei Chen Department of Dermatology and Venerology, West China Hospital of Sichuan University, Chengdu, People’s Republic of ChinaCorrespondence: Xiao-Mei Chen, Department of Dermatology, West China Hospital of Sichuan University, Chengdu, People’s Republic of China, Email [email protected]: Lipoid proteinosis (LP) is an uncommon, autosomal recessive genetic disorder. Multigene panel testing was conducted to confirm the diagnosis of a sporadic family with suspected LP. In the proband, we identified two mutations of ECMI and provided genetic evidence for informed genetic counselling.Keywords: proteinosis, lipoid, multigene panel testing, ECM1 gene

Keywords

• proteinosis
• lipoid
• multigene panel testing
• ecm1 gene