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March 15, 2022; 98 (11) Clinical/Scientific Note

De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome

View ORCID ProfileMaike F. Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, View ORCID ProfileRobert Smigiel, Alka Malhotra, Donald Basel, View ORCID ProfileIngrid van de Laar, View ORCID ProfileRinze Frederik Neuteboom, Coranne Aarts-Tesselaar, Sonal Mahida, View ORCID ProfileNicola Brunetti-Pierri, Ryan J. Taft, Stephan Züchner
First published February 2, 2022, DOI: https://doi.org/10.1212/WNL.0000000000013276
Maike F. Dohrn
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Adriana P. Rebelo
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Siddharth Srivastava
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Gerarda Cappuccio
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Robert Smigiel
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Alka Malhotra
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Donald Basel
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Ingrid van de Laar
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Rinze Frederik Neuteboom
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Coranne Aarts-Tesselaar
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Sonal Mahida
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Nicola Brunetti-Pierri
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Ryan J. Taft
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Stephan Züchner
From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
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Full PDF
Citation
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome
Maike F. Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Smigiel, Alka Malhotra, Donald Basel, Ingrid van de Laar, Rinze Frederik Neuteboom, Coranne Aarts-Tesselaar, Sonal Mahida, Nicola Brunetti-Pierri, Ryan J. Taft, Stephan Züchner
Neurology Mar 2022, 98 (11) 440-445; DOI: 10.1212/WNL.0000000000013276

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Abstract

ATP1A1 encodes the α1 subunit of the sodium-potassium ATPase, an electrogenic cation pump highly expressed in the nervous system. Pathogenic variants in other subunits of the same ATPase, encoded by ATP1A2 or ATP1A3, are associated with syndromes such as hemiplegic migraine, dystonia, or cerebellar ataxia. Worldwide, only 16 families have been reported carrying pathogenic ATP1A1 variants to date. Associated phenotypes are axonal neuropathies, spastic paraplegia, and hypomagnesemia with seizures and intellectual disability. By whole exome or genome sequencing, we identified 5 heterozygous ATP1A1 variants, c.674A>G;p.Gln225Arg, c.1003G>T;p.Gly335Cys, c.1526G>A;p.Gly509Asp, c.2152G>A;p.Gly718Ser, and c.2768T>A;p.Phe923Tyr, in 5 unrelated children with intellectual disability, spasticity, and peripheral, motor predominant neuropathy. Additional features were sensory loss, sleep disturbances, and seizures. All variants occurred de novo and are absent from control populations (MAF GnomAD = 0). Affecting conserved amino acid residues and constrained regions, all variants have high pathogenicity in silico prediction scores. In HEK cells transfected with ouabain-insensitive ATP1A1 constructs, cell viability was significantly decreased in mutants after 72h treatment with the ATPase inhibitor ouabain, demonstrating loss of ATPase function. Replicating the haploinsufficiency mechanism of disease with a gene-specific assay provides pathogenicity information and increases certainty in variant interpretation. This study further expands the genotype-phenotype spectrum of ATP1A1.

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  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Received July 14, 2021.
  • Accepted in final form December 17, 2021.
  • © 2021 American Academy of Neurology
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