Evidence map›Paper›PMID 29127725›Full record

ArticleHuman mutation2018

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

Vincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, Bhawana Maurya, Sarah Wiethoff, Balasubramaniem Ashokkumar, Maria Concetta Cutrupi, Valeria Dipasquale, Sara Manti, Juan A Botia and 8 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
1.2field-weighted citation impact, top 21% 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

21 citing papers in PubMed, 54 citations in OpenAlex.

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  15. Biallelic Variants inInternational journal of molecular sciences · 2021
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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

18 authors at 7 institutions in 5 countries.

Vincenzo SalpietroDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.ORCID 0000-0003-0132-7921
Stephanie EfthymiouDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Andreea ManoleDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Bhawana MauryaDepartment of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India.
Sarah WiethoffDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Balasubramaniem AshokkumarDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Maria Concetta CutrupiDepartment of Paediatrics, University of Messina, Messina, Italy.
Valeria DipasqualeDepartment of Paediatrics, University of Messina, Messina, Italy.
Sara MantiDepartment of Paediatrics, University of Messina, Messina, Italy.
Juan A BotiaDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Mina RytenDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Jana VandrovcovaDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Oscar D BelloDepartment of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK.
Conceicao BettencourtDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Kshitij MankadDepartment of Neuroradiology, Great Ormond Street Hospital for Children, London, UK.
Ashim MukherjeeDepartment of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India.
Mousumi MutsuddiDepartment of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India.
Henry HouldenDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
University College London · GBBanaras Hindu University · INUniversity of Messina · ITEpilepsy Research UK · GBZero to Three · USGreat Ormond Street Hospital · GBMadurai Kamaraj University · IN

Funding

Medical Research Council G0802462Medical Research Council MR/K01417X/1Medical Research Council MR/N008324/1Wellcome Trust WT093205 MAWellcome Trust WT104033AIA
6 · The paper itself

Abstract

We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events. DDX59 encodes a DEAD-box RNA helicase and its role in brain function and neurological diseases is unclear. We showed a reduction of mutant cDNA and perturbation of SHH signaling from patient-derived cell lines; furthermore, analysis of human brain gene expression provides evidence that DDX59 is enriched in oligodendrocytes and might act within pathways of leukoencephalopathies-associated genes. We also characterized the neuronal phenotype of the Drosophila model using mutant mahe, the homolog of human DDX59, and showed that mahe loss-of-function mutant embryos exhibit impaired development of peripheral and central nervous system. Taken together, our results support a conserved role of this DEAD-box RNA helicase in neurological function.

Indexed as

AdultAmino Acid SequenceAnimalsCentral Nervous SystemChildChild, PreschoolDEAD-box RNA HelicasesDrosophilaFemaleFrameshift MutationHomozygoteHumansMaleMolecular Sequence DataMutationRNA HelicasesDDX59 protein, humanDEAD-box RNA HelicasesRNA HelicasesDDX59DEAD-box RNA HelicaseleukoencephalopathymaheNOTCH signalingSonic Hedgehog signaling

Identifiers

PMID29127725
PMCPMC5814734
OpenAlexW2767331998

What OpenQuestion holds

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Registered trials

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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.