advertisement
Abstract #113367 Published in IGR 24-3
Exome sequencing in retinal dystrophy patients reveals a novel candidate gene ER membrane protein complex subunit 3
Li YP; Shen RJ; Cheng YM; Zhao Q; Jin K; Jin ZB; Zhang SHeliyon 2023; 9: e20146
Inherited retinal dystrophies (IRDs) are a heterogeneous group of visual disorders caused by different pathogenic mutations in genes and regulatory sequences. The endoplasmic reticulum (ER) membrane protein complex (EMC) subunit 3 (EMC3) is the core unit of the EMC insertase that integrates the transmembrane peptides into lipid bilayers, and the function of its cytoplasmic carboxyl terminus remains to be elucidated. In this study, an insertional mutation c.768insT in the C-terminal coding region of was identified and associated with dominant IRDs in a five-generation family. This mutation caused a frameshift in the coding sequence and a gain of an additional 16 amino acid residues (p.L256F-fs-ext21) to form a helix structure in the C-terminus of the EMC3 protein. The mutation is heterozygous with an incomplete penetrance, and cosegregates in all patients examined. This finding indicates that the C-terminus of EMC3 is essential for EMC functions and that may be a novel candidate gene for retinal degenerative diseases.
Laboratory for Stem Cell & Retinal Regeneration, The Eye Hospital, Basic Medical College, Wenzhou Medical University, Wenzhou, 325027, China.
Full article