Evidence map›Paper›PMID 38504481›Full record

ArticleAnnals of clinical and translational neurology2024

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

Maike F Dohrn, Guney Bademci, Adriana P Rebelo, Médéric Jeanne, Nicholas A Borja, Danique Beijer, Matt C Danzi, Stephanie A Bivona, Paul Gueguen, Mohammad F Zafeer and 3 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
1.7field-weighted citation impact, top 17% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 3 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 3 institutions in 3 countries.

Maike F DohrnDr. 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.ORCID 0000-0002-5320-9807
Guney BademciDr. 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.
Adriana P RebeloDr. 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.
Médéric JeanneService de Génétique Médicale, CHRU de Tours, Tours, France.
Nicholas A BorjaDr. 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.
Danique BeijerDr. 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.
Matt C DanziDr. 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.
Stephanie A BivonaDr. 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.
Paul GueguenService de Génétique Médicale, CHRU de Tours, Tours, France.
Mohammad F ZafeerDr. 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.
Undiagnosed Diseases Network
Mustafa TekinDr. 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.
Stephan ZüchnerDr. 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.
University of Miami · USCentre Hospitalier Universitaire de Tours · FRUniversité de Tours · FR

Funding

Overall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Lea K Davis · 2020 to 2026
$10.3M
Genomic Studies in Charcot-Marie-Tooth DiseaseR01NS105755 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SHY, MICHAEL E., ZUCHNER, STEPHAN · 2019 to 2023
$3.2M
The Undiagnosed Diseases Network Clinical Site of MiamiU01NS134353 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MUSTAFA TEKIN, Stephan Zuchner · 2023 to 2026
$3.1M
Exploring minorities The Undiagnosed Diseases Network Clinical Site of MiamiU01HG010230 · NHGRI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI TEKIN, MUSTAFA, ZUCHNER, STEPHAN · 2018 to 2021
$2.6M
UCLA clinical site for the investigation of undiagnosed disordersU01NS134356 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2023 to 2023
$936k
NHGRI NIH HHS U01 HG010230NICHD NIH HHS P50 HD103537NIH HHS R01NS105755NINDS NIH HHS R01 NS105755NINDS NIH HHS U01 NS134353NINDS NIH HHS U01 NS134356
6 · The paper itself

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.

Indexed as

Autistic DisorderIntellectual DisabilityAdenosine TriphosphatasesChildFamilyHumansSiblingsSodium-Potassium-Exchanging ATPaseAdenosine TriphosphatasesATP1A1 protein, humanSodium-Potassium-Exchanging ATPase

Identifiers

PMID38504481
PMCPMC11021672
OpenAlexW4393011410

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.