Ontology highlight
ABSTRACT:
SUBMITTER: Imani S
PROVIDER: S-EPMC5787432 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Imani Saber S Cheng Jingliang J Shasaltaneh Marzieh Dehghan MD Wei Chunli C Yang Lisha L Fu Shangyi S Zou Hui H Khan Md Asaduzzaman MA Zhang Xianqin X Chen Hanchun H Zhang Dianzheng D Duan Chengxia C Lv Hongbin H Li Yumei Y Chen Rui R Fu Junjiang J
Oncotarget 20171109 1
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 <i>PROM1</i> gene. Structurally, this mutation most likely impairs P ...[more]