Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.

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第一作者： Abhimanyu S,Ahuja

第一单位： Charles E. Schmidt College of Medicine, Florida Atlantic University , Boca Raton, Florida, USA.

作者： Abhimanyu S,Ahuja ^[1] ; Pavalan,Selvam ^[2] ; Charitha,Vadlamudi ^[2] ; Hayley,Chopra ^[3] ; John E,Richter ^[3] ; Sarah K,Macklin ^[4] ; Ayesha,Samreen ^[4] ; Haytham,Helmi ^[5] ; Ahmed N,Mohammaad ^[2] ; Stephanie,Hines ^[6] ; Maria C,Davila ; Paldeep S,Atwal ; Thomas R,Caulfield

作者单位： Charles E. Schmidt College of Medicine, Florida Atlantic University , Boca Raton, Florida, USA. ^[1] Department of Clinical Genomics, Atwal Clinic , Jacksonville, Florida, USA. ^[2] Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, Texas, USA. ^[3] Department of Endocrinology, Mayo Clinic , Jacksonville, Florida, USA. ^[4] Department of Medicine, Division of Diagnostic & Consultative Medicine, Mayo Clinic , Jacksonville, Florida, USA. ^[5] Department of Neuroscience, Mayo Clinic , Jacksonville, Florida, USA.;Department of Neurosurgery, Mayo Clinic , Jacksonville, Florida, USA.;Department of Cancer Biology, Mayo Clinic , Jacksonville, Florida, USA.;Department of Health Sciences Research, Mayo Clinic , Jacksonville, Florida, USA. ^[6]

关键词 Autosomal Dominant Optic Atrophy (ADOA)Optic Atrophy Gene 1 (OPA1)gene mutation molecular Genetics novel mutation pathogenicity protein informatics variant of uncertain significance