Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.

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第一作者： Sisi,Li

第一单位： Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research and Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, 430074, China.

作者： Sisi,Li ^[1] ; Quansheng,Xi ^[2] ; Xiaoyu,Zhang ^[1] ; Dong,Yu ^[1] ; Lin,Li ^[2] ; Zhenyang,Jiang ^[1] ; Qiuyun,Chen ^[3] ; Qing K,Wang ^[4] ; Elias I,Traboulsi ^[5]

作者单位： Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research and Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, 430074, China. ^[1] Department of Molecular Cardiology, Center for Cardiovascular Genetics, Cleveland Clinic Lerner Research Institute, Cleveland, OH, 44195, USA. ^[2] Department of Molecular Cardiology, Center for Cardiovascular Genetics, Cleveland Clinic Lerner Research Institute, Cleveland, OH, 44195, USA.;Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Cleveland, USA.;Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44195, USA. ^[3] Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research and Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, 430074, China. wangq2@ccf.org.;Department of Molecular Cardiology, Center for Cardiovascular Genetics, Cleveland Clinic Lerner Research Institute, Cleveland, OH, 44195, USA. wangq2@ccf.org.;Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Cleveland, USA. wangq2@ccf.org.;Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44195, USA. wangq2@ccf.org. ^[4] Center for Genetic Eye Diseases, Cleveland Clinic Cole Eye Institute, Cleveland, OH, 44195, USA. traboue@ccf.org. ^[5]

关键词 Amish CNNM4 mutation Early-onset childhood retinal dystrophy IQCB1 Jalili syndrome Leber congenital amaurosis (LCA)