Evidence map›Paper›PMID 40947476›Full record

ArticleHuman genome variation2025

Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant.

Jun Kido, Tomoyuki Mizukami, Yohei Misumi, Keishin Sugawara, Shouichirou Kusunoki, Naoto Nishimura, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2025. 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

10 authors.

Jun KidoDepartment of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan. kidojun@kuh.kumamoto-u.ac.jp.ORCID http://orcid.org/0000-0003-1328-6696
Tomoyuki MizukamiDepartment of Pediatrics, National Hospital Organization Kumamoto Medical Center, Kumamoto, Japan.
Yohei MisumiDepartment of Neurology, Kumamoto University Hospital, Kumamoto, Japan.
Keishin SugawaraDepartment of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Shouichirou KusunokiDepartment of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
Naoto NishimuraDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takeshi MizuguchiDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mitsuharu UedaDepartment of Neurology, Kumamoto University Hospital, Kumamoto, Japan.ORCID http://orcid.org/0000-0002-6814-0582
Kimitoshi NakamuraDepartment of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

Funding

Japan Agency for Medical Research and Development (AMED) JP24ek0109674, JP24ek0109760, JP24ek0109617, JP24ek0109648, and JP24ek0109677MEXT | Japan Society for the Promotion of Science (JSPS) JP23K07316MEXT | Japan Society for the Promotion of Science (JSPS) JP23K27568MEXT | Japan Society for the Promotion of Science (JSPS) JP24K02230
6 · The paper itself

Abstract

Src Homology 3 Domain-containing Adaptor Protein 3 (SASH3) deficiency is an X-linked immune disorder. Here we identified a male case with a pathogenic SASH3 variant (c.1039C>T [p.Arg347Cys]) who presented with osteogenesis imperfecta, intellectual disability and recurrent infections. While immunological features in this case were characterized, further studies are needed to determine the association between the SASH3 variant and the skeletal or neurological manifestations.

Identifiers

PMID40947476
PMCPMC12434141

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 Socratic graph.