Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

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第一作者： Mythily,Ganapathi

第一单位： Personalized Genomic Medicine, Department of Pathology & Cell Biology, Columbia University Medical Center, New York, NY 10032, USA.

作者： Mythily,Ganapathi ^[1] ; Leah R,Padgett ^[2] ; Kentaro,Yamada ^[3] ; Orrin,Devinsky ^[4] ; Rebecca,Willaert ^[5] ; Richard,Person ^[5] ; Ping-Yee Billie,Au ^[6] ; Julia,Tagoe ^[6] ; Marie,McDonald ^[7] ; Danielle,Karlowicz ^[7] ; Barry,Wolf ^[8] ; Joanna,Lee ^[8] ; Yufeng,Shen ^[9] ; Volkan,Okur ^[10] ; Liyong,Deng ^[10] ; Charles A,LeDuc ^[10] ; Jiayao,Wang ^[9] ; Ashleigh,Hanner ^[11] ; Raghavendra G,Mirmira ^[3] ; Myung Hee,Park ^[11] ; Teresa L,Mastracci ^[12] ; Wendy K,Chung ^[13]

作者单位： Personalized Genomic Medicine, Department of Pathology & Cell Biology, Columbia University Medical Center, New York, NY 10032, USA. ^[1] Regenerative Medicine & Metabolic Biology, Indiana Biosciences Research Institute, Indianapolis, IN 46202, USA. ^[2] Department of Pediatrics and the Center for Diabetes and Metabolic Diseases, Indiana University School of Medicine, Indianapolis, IN 46202, USA. ^[3] Neurology Department, NYU Langone Medical Center, New York, NY 10016, USA. ^[4] GeneDx, Gaithersburg, MD 20877, USA. ^[5] Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada. ^[6] Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. ^[7] Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Pediatrics, Feinberg School of Medicine, Chicago, IL 60611, USA. ^[8] Department of Systems Biology, Columbia University Medical Center, New York, NY 10032, USA. ^[9] Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA. ^[10] National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892-4340, USA. ^[11] Regenerative Medicine & Metabolic Biology, Indiana Biosciences Research Institute, Indianapolis, IN 46202, USA; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA. ^[12] Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address: wkc15@columbia.edu. ^[13]

关键词 DHPS DOHH deoxyhypusine synthase eIF5A exome sequencing hypusination hypusine inborn errors of metabolism neurodevelopmental disorder polyamine pathway