Evidence map›Paper›PMID 33058507›Full record

ArticleAnnals of clinical and translational neurology2020

Novel NUDT2 variant causes intellectual disability and polyneuropathy.

Frank Diaz, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M Morrow, Rebecca Signer, Naghmeh Dorrani, Allison Zheng, Matthew Herzog and 9 more

Registry-linked trialOpen access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.4field-weighted citation impact, top 39% 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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 10 citations in OpenAlex.

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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

19 authors at 4 institutions in 2 countries.

Frank DiazDepartment of Neurology, Olive View-UCLA Medical Center, Sylmar, California, USA.ORCID 0000-0003-3526-1852
Shaweta KhosaDepartment of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Dmitriy NiyazovDepartment of Pediatrics, Ochsner Children's Health Center, New Orleans, Louisiana, USA.
Hane LeeDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Richard PersonGeneDx, Inc., Gaithersburg, Maryland, USA.
Michelle M MorrowGeneDx, Inc., Gaithersburg, Maryland, USA.
Rebecca SignerDepartment of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Naghmeh DorraniDepartment of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Allison ZhengDepartment of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Matthew HerzogDepartment of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Robert FreundlichDepartment of Neurology, Olive View-UCLA Medical Center, Sylmar, California, USA.
Undiagnosed Diseases Network
J Brandon BirathDepartment of Neurology, Olive View-UCLA Medical Center, Sylmar, California, USA.
Yurivia Cervantes-ManzoDepartment of Neurology, Olive View-UCLA Medical Center, Sylmar, California, USA.
Julian A Martinez-AgostoDepartment of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.ORCID 0000-0001-6776-6949
Christina PalmerDepartment of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Stanley F NelsonDepartment of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Brent L FogelDepartment of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Shri K MishraDepartment of Neurology, Olive View-UCLA Medical Center, Sylmar, California, USA.
University of California, Los Angeles · USNeurobehavioral Systems · USCedars-Sinai Medical Center · USOchsner Health System · US

Funding

UCLA clinical site for the investigation of undiagnosed disordersU01HG007703 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2014 to 2022
$10.1M
NHGRI NIH HHS U01 HG007703
6 · The paper itself

Abstract

Exome or genome sequencing was performed to identify the genetic etiology for the clinical presentation of global developmental delay, intellectual disability, and sensorimotor neuropathy with associated distal weakness in two unrelated families. A homozygous frameshift variant c.186delA (p.A63Qfs*3) in the NUDT2 gene was identified in cases 1 and 2 from one family and a third case from another family. Variants in NUDT2 were previously shown to cause intellectual disability, but here we expand the phenotype by demonstrating its association with distal upper and lower extremity weakness due to a sensorimotor polyneuropathy with demyelinating and/or axonal features.

Indexed as

AdultChildDevelopmental DisabilitiesElectroencephalographyElectromyographyExome SequencingFemaleFrameshift MutationHumansIntellectual DisabilityMagnetic Resonance ImagingMaleNudix HydrolasesPedigreePhosphoric Monoester HydrolasesPolyneuropathiesNudix HydrolasesNUDT2 protein, humanPhosphoric Monoester Hydrolases

Identifiers

PMID33058507
PMCPMC7664258
OpenAlexW3093287076

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

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.