Evidence map›Paper›PMID 35328024›Full record

ArticleGenes2022

Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous

Daniel R Evans, Ying Qiao, Brett Trost, Kristina Calli, Sally Martell, Steven J M Jones, Stephen W Scherer, M E Suzanne Lewis

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

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.2field-weighted citation impact, top 24% 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

5 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

8 authors at 2 institutions in 1 country.

Daniel R EvansDepartment of Family Practice, University of British Columbia (UBC), Victoria, BC V8R 1J8, Canada.
Ying QiaoMedical Genetics, University of British Columbia (UBC), Vancouver, BC V6H 3N1, Canada.
Brett TrostThe Centre for Applied Genomics and McLaughlin Centre, Hospital for Sick Children, University of Toronto, Toronto, ON M5G 0A4, Canada.ORCID 0000-0003-4863-7273
Kristina CalliMedical Genetics, University of British Columbia (UBC), Vancouver, BC V6H 3N1, Canada.
Sally MartellMedical Genetics, University of British Columbia (UBC), Vancouver, BC V6H 3N1, Canada.
Steven J M JonesMedical Genetics, University of British Columbia (UBC), Vancouver, BC V6H 3N1, Canada.ORCID 0000-0003-3394-2208
Stephen W SchererThe Centre for Applied Genomics and McLaughlin Centre, Hospital for Sick Children, University of Toronto, Toronto, ON M5G 0A4, Canada.
M E Suzanne LewisMedical Genetics, University of British Columbia (UBC), Vancouver, BC V6H 3N1, Canada.
University of British Columbia · CAUniversity of Toronto · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorder (ASD) describes a complex and heterogenous group of neurodevelopmental disorders. Whole genome sequencing continues to shed light on the multifactorial etiology of ASD. Dysregulated transcriptional pathways have been implicated in neurodevelopmental disorders. Emerging evidence suggests that de novo POLR2A variants cause a newly described phenotype called ‘Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities’ (NEDHIB). The variable phenotype manifests with a spectrum of features; primarily early onset hypotonia and delay in developmental milestones. In this study, we investigate a patient with complex ASD involving epilepsy and strabismus. Whole genome sequencing of the proband−parent trio uncovered a novel de novo POLR2A variant (c.1367T>C, p. Val456Ala) in the proband. The variant appears deleterious according to in silico tools. We describe the phenotype in our patient, who is now 31 years old, draw connections between the previously reported phenotypes and further delineate this emerging neurodevelopmental phenotype. This study sheds new insights into this neurodevelopmental disorder, and more broadly, the genetic etiology of ASD.

Indexed as

Autism Spectrum DisorderEpilepsyIntellectual DisabilitySelf-Injurious BehaviorStrabismusDNA-Directed RNA PolymerasesHumansMuscle HypotoniaDNA-Directed RNA PolymerasesPOLR2A RNA polymerase, humanautism spectrum disorderneurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB)POLR2Avariant

Identifiers

PMID35328024
PMCPMC8955435
OpenAlexW4220777889

What OpenQuestion holds

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LicenceCC BY
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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.