Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (MRCS) syndrome is a rare genetic retinal dystrophy disorder. It has been reported that mutations in ARL2 cause MRCS syndrome. ARL2 encodes a GTPase belonging to the RAS superfamily. It was indicated that ARL2 plays a role in microtubule dynamics, which would be involved in determination of cell shape, cell division, intracellular transport, and cell motility.
Cai XB, Wu KC, Zhang X, Lv JN, Jin GH, Xiang L, Chen J, Huang XF, Pan D, Lu B, Lu F, Qu J, Jin ZB
タイトル
Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
