Evidence map›Paper›PMID 38750072›Full record

ArticleHuman genome variation2024

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.

Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto

Abstract 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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
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

5 authors.

Keiko Shimojima YamamotoDepartment of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.ORCID http://orcid.org/0000-0003-2362-3844
Yusuke ItagakiDepartment of Pediatrics, Suita Municipal Hospital, Suita, Japan.
Kazuki TanakaDepartment of Pediatrics, Suita Municipal Hospital, Suita, Japan.
Nobuhiko OkamotoDepartment of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Toshiyuki YamamotoInstitute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. yamamoto.toshiyuki@twmu.ac.jp.ORCID http://orcid.org/0000-0002-9484-3505

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion. However, the clinical features of the patient were consistent with those of TCEAL1 loss-of-function syndrome. The breakpoint junction was analyzed using long-read sequencing, and blunt-end fusion was confirmed.

Identifiers

PMID38750072
PMCPMC11096163

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.