Evidence map›Paper›PMID 38182567›Full record

ArticleHuman genome variation2024

A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression.

Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima

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

Article in Human genome variation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
4.4field-weighted citation impact, top 6% 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

7 citing papers in PubMed, 8 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

7 authors at 3 institutions in 1 country.

Sachi TokunagaDepartment of Pediatrics, Hyogo Medical University School of Medicine, Nishinomiya, Hyogo, Japan. sa-tokunaga@hyo-med.ac.jp.
Hideki ShimomuraDepartment of Pediatrics, Hyogo Medical University School of Medicine, Nishinomiya, Hyogo, Japan.
Naoko TaniguchiDepartment of Pediatrics, Hyogo Medical University School of Medicine, Nishinomiya, Hyogo, Japan.
Kumiko YanagiDepartment of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.ORCID http://orcid.org/0000-0001-6961-0438
Tadashi KanameDepartment of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.ORCID http://orcid.org/0000-0003-0281-9610
Nobuhiko OkamotoDepartment of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.ORCID http://orcid.org/0000-0001-5415-656X
Yasuhiro TakeshimaDepartment of Pediatrics, Hyogo Medical University School of Medicine, Nishinomiya, Hyogo, Japan.
Hyogo Medical University · JPNational Center For Child Health and Development · JPOsaka Women's and Children's Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

DLG4-related synaptopathy is a neurodevelopmental disorder caused by a DLG4 variant. We identified a novel de novo heterozygous frameshift variant, NM_001321075.3(DLG4):c.554_563del, in a Japanese girl. Intellectual regression without motor delay was observed at 2 years of age, and she was diagnosed with autism spectrum disorder and attention-deficit/hyperactivity disorder. Recognizing the possibility of DLG4-related synaptopathy in patients with intellectual regression is important for ensuring an accurate diagnosis.

Identifiers

PMID38182567
PMCPMC10770362
OpenAlexW4390612099

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.