Abstract:  Objective To describe the clinical manifestations and characteristics of pathogenic gene variants in Chinese patients carrying ECM1 gene variants causing lipoid proteinosis. Design Retrospective case series. Participants 16 Chinese probands (2 patients from Beijing Tongren Hospital and 14 patients from 11 recent literatures) with pathogenic variants in ECM1 gene. Methods The clinical manifestations of the patients were reviewed. Peripheral blood samples of patients and their parents were collected to extract genomic DNA, and Sanger sequencing was used to sequence the ECM1 gene in probands. Multiple bioinformatics analysis software was used to predict the pathogenicity of the suspected pathogenic variants and the pathogenic variants were performed the co-segregated analysis. Main Outcome Measures ECM1 gene variants, ocular signs, voice changes, and skin mucosal abnormalities. Results The mean age of the 16 patients was (20.9±13.8) years, and all patients presented with varying degrees of hoarseness and eyelid bead-like papules. 8 patients had hoarseness since birth, 2 in infancy and 6 in early childhood. The missense variants were the main types of detected variants, accounting for 35.7% of the total variants. The variants were concentrated in exons 6 and 7, accounting for 58.7% of all variants. The p.(Cys220Gly) variant located in exon 6 was the hot spot of variants in the Chinese population. Conclusion Patients with lipoid proteinosis all have typical clinical features of hoarseness and eyelid bead-like papules. Chinese ECM1 gene variants are concentrated in exons 6 and 7, and the hot spot is p. (Cys220Gly) of exon 6. (Ophthalmol CHN, 2021, 30: 374-378)

Key words:  , lipoid proteinosis, ECM1 gene, gene variant