Evidence map›Paper›PMID 33683518›Full record

ArticleNeurogenetics2021

8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder.

Nele Cosemans, Jarymke Maljaars, Annick Vogels, Maureen Holvoet, Koen Devriendt, Jean Steyaert, Kris Van Den Bogaert, Ilse Noens, Hilde Peeters

Abstract read
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Article in Neurogenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

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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.

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

9 authors.

Nele CosemansCenter for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49 - box 606, 3000, Leuven, Belgium.ORCID 0000-0002-9015-2803
Jarymke MaljaarsLeuven Autism Research (LAuRes), Leuven, Belgium.
Annick VogelsCenter for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49 - box 606, 3000, Leuven, Belgium.
Maureen HolvoetCenter for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49 - box 606, 3000, Leuven, Belgium.
Koen DevriendtCenter for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49 - box 606, 3000, Leuven, Belgium.
Jean SteyaertLeuven Autism Research (LAuRes), Leuven, Belgium.
Kris Van Den BogaertCenter for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49 - box 606, 3000, Leuven, Belgium.
Ilse NoensLeuven Autism Research (LAuRes), Leuven, Belgium.
Hilde PeetersCenter for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49 - box 606, 3000, Leuven, Belgium. hilde.peeters@uzleuven.be.ORCID 0000-0002-7295-3375

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A de novo 0.95 Mb 8p21.3 deletion had been identified in an individual with non-syndromic autism spectrum disorder (ASD) through high-resolution copy number variant analysis. Subsequent screening of in-house and publicly available databases resulted in the identification of six additional individuals with 8p21.3 deletions. Through case-based reasoning, we conclude that 8p21.3 deletions are rare causes of non-syndromic neurodevelopmental and neuropsychiatric disorders. Based on literature data, we highlight six genes within the region of minimal overlap as potential ASD genes or genes for neuropsychiatric disorders: DMTN, EGR3, FGF17, LGI3, PHYHIP, and PPP3CC.

Indexed as

Gene DeletionAutism Spectrum DisorderDNA Copy Number VariationsGenetic Predisposition to DiseaseHumansRisk Factors8p21.3 deletionsNeurodevelopmental and neuropsychiatric disordersNon-syndromic autism spectrum disorder

Identifiers

PMID33683518

What OpenQuestion holds

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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.