Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families

• DOI: 10.1038/srep35414
• Publication Date: 2016-10-14T10:20:31Z
• Authors: Bing Lin; Xue-Bi Cai; Zhi-Li Zheng; Xiu-Feng Huang; Xiao-Ling Liu; Jia Qu; Zi-Bing Jin
• Keywords: ABCA4; Stargardt disease; Macular dystrophy; Pedigree chart; Lipofuscin

Abstract Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central vision the first 2 decades of life. The condition has genetic basis due to mutation ABCA4 gene, and arises from deposition lipofuscin-like substance retinal pigmented epithelium (RPE) with secondary photoreceptor cell death. In this study, we describe clinical features patients four unrelated Chinese cohorts. targeted exome sequencing (TES) was carried out clinically confirmed their family members using gene panel comprising 164 known causative dystrophy (IRD) genes. Genetic analysis revealed eight mutations all pedigrees, including six coding exons two adjacent intronic areas. All affected individuals showed typical manifestations consistent phenotype. We disclose novel STGD disease, which will expand existing spectrum disease-causing variants further aid future screening counseling, as well understanding phenotypic genotypic correlations.