Evidence map›Paper›PMID 34483339›Full record

ArticleEuropean journal of human genetics : EJHG2021

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.

Matthew A Lines, Alexanne Cuillerier, Pranesh Chakraborty, Turaya Naas, M Laura Duque Lasio, Jean Michaud, Chantal Pileggi, Mary-Ellen Harper, Yan Burelle, Tomi L Toler and 4 more

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

Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 43% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Pooled it
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  3. Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 6 institutions in 2 countries.

Matthew A LinesMedical Genetics, Department of Pediatrics, Alberta Children's Hospital, Calgary, AB, Canada.
Alexanne CuillerierDepartment of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
Pranesh ChakrabortyMetabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Turaya NaasNewborn Screening Ontario, Ottawa, ON, Canada.
M Laura Duque LasioDivision of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0003-2877-5556
Jean MichaudDepartment of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, ON, Canada.
Chantal PileggiDepartment of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
Mary-Ellen HarperDepartment of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.ORCID 0000-0003-3864-5886
Yan BurelleDepartment of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.ORCID 0000-0001-9379-146X
Tomi L TolerDivision of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-1637-8310
Neal SondheimerDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Heather P CrawfordInnovative Genetics Care, The Woodlands, TX, USA.
Francisca MillanGeneDx, Gaithersburg, MD, USA.
Michael T GeraghtyMetabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. mgeraghty@cheo.on.ca.ORCID 0000-0002-3068-8577
University of Ottawa · CAWashington University in St. Louis · USCARE Fertility · USNewborn Screening Ontario · CAUniversity of Calgary · CAUniversity of Toronto · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mitochondrial disorders are a heterogeneous group of rare, degenerative multisystem disorders affecting the cell's core bioenergetic and signalling functions. Spontaneous improvement is rare. We describe a novel neonatal-onset mitochondriopathy in three infants with failure to thrive, hyperlactatemia, hyperammonemia, and apparent clinical resolution before 18 months. Exome sequencing showed all three probands to be identically heterozygous for a recurrent de novo substitution, c.620G>A [p.(Arg207His)] in ATP5F1A, encoding the α-subunit of complex V. Patient-derived fibroblasts exhibited multiple deficits in complex V function and expression in vitro. Structural modelling predicts the observed substitution to create an abnormal region of negative charge on ATP5F1A's β-subunit-interacting surface, adjacent to the nearby β subunit's active site. This disorder, which presents with life-threatening neonatal manifestations, appears to follow a remitting course; the long-term prognosis remains unknown.

Indexed as

Catalytic DomainCells, CulturedChild, PreschoolFemaleFibroblastsHumansInfantMaleMitochondrial DiseasesMitochondrial Proton-Translocating ATPasesMutationPhenotypeATP5F1A protein, humanMitochondrial Proton-Translocating ATPases

Identifiers

PMID34483339
PMCPMC8560863
OpenAlexW3198123384

What OpenQuestion holds

Textmetadata
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.