Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
Annals of Clinical and Translational Neurology, vol. 11, pp. 1075–1079
Abstract
ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor and speech development and autism. While absent in controls, the variant occurred de novo in one proband and co-segregated in two affected half-siblings, with mosaicism in the healthy mother. Using a specific ouabain resistance assay in mutant transfected HEK cells, we found significantly reduced cell viability. Demonstrating loss of ATPase function, we conclude that this novel variant is pathogenic, expanding the phenotype spectrum of ATP1A1.
Authors 12
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University of Miami · Dr. John T. Macdonald Foundation · RWTH Aachen University
Affiliation as printed
Department of Neurology Medical Faculty of the RWTH Aachen University Aachen Germany
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
Department of Neurology Medical Faculty of the RWTH Aachen University Aachen Germany
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
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University of Miami · Dr. John T. Macdonald Foundation
Affiliation as printed
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
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University of Miami · Dr. John T. Macdonald Foundation
Affiliation as printed
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
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Université de Tours · Inserm · Imaging, Brain, and Neuropsychiatry · Centre Hospitalier Universitaire de Tours
Affiliation as printed
Laboratoire de Biologie Médicale Multi‐Sites SeqOIA (laboratoire‐seqoia.fr/) Paris France
Service de Génétique Médicale, CHRU de Tours Tours France
UMR 1253, iBrain, Université de Tours, INSERM Tours France
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University of Miami · Dr. John T. Macdonald Foundation
Affiliation as printed
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
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University of Miami · Dr. John T. Macdonald Foundation
Affiliation as printed
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
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University of Miami · Dr. John T. Macdonald Foundation
Affiliation as printed
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
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University of Miami · Dr. John T. Macdonald Foundation
Affiliation as printed
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
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Centre Hospitalier Universitaire de Tours
Affiliation as printed
Service de Génétique Médicale, CHRU de Tours Tours France
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University of Miami · Dr. John T. Macdonald Foundation
Affiliation as printed
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
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University of Miami · Dr. John T. Macdonald Foundation
Affiliation as printed
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
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University of Miami · Dr. John T. Macdonald Foundation
Affiliation as printed
Dr. John T. Macdonald Foundation, Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine Miami Florida USA
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