Saber Imani, Jingliang Cheng, Marzieh Dehghan Shasaltaneh, Chunli Wei, Lisha Yang, Shangyi Fu, Hui Zou, Md Asaduzzaman Khan, Xianqin Zhang, Hanchun Chen, Dianzheng Zhang, Chengxia Duan, Hongbin Lv, Yumei Li, Rui Chen, Junjiang Fu
Stargardt disease-4 (STGD4) is an autosomal dominant complex, genetically heterogeneous macular degeneration/dystrophy (MD) disorder. In this paper, we used targeted next generation sequencing and multiple molecular dynamics analyses to identify and characterize a disease-causing genetic variant in four generations of a Chinese family with STGD4-like MD. We found a novel heterozygous missense mutation, c.734T>C (p.L245P) in the PROM1 gene. Structurally, this mutation most likely impairs PROM1 protein stability, flexibility, and amino acid interaction network after changing the amino acid residue Leucine into Proline in the basic helix-loop-helix leucine zipper domain...
January 2, 2018: Oncotarget