Evidence map›Paper›PMID 40903467›Full record

ArticleHuman genome variation2025

A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing.

Kenichi Suga, Hiroki Sato, Masashi Suzue, Yukako Honma, Yasunobu Hayabuchi, Ryuji Nakagawa, Kayo Shinomiya, Nobuhiko Okamoto, Yuta Inoue, Naomi Tsuchida and 4 more

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Article in Human genome variation, 2025. 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

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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

14 authors.

Kenichi SugaDepartment of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan. aksuga@icloud.com.
Hiroki SatoDepartment of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
Masashi SuzueDepartment of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
Yukako HonmaDepartment of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
Yasunobu HayabuchiDepartment of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.ORCID http://orcid.org/0000-0001-6143-2673
Ryuji NakagawaDepartment of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
Kayo ShinomiyaDepartment of Ophthalmology, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
Nobuhiko OkamotoDepartment of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Yuta InoueDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Naomi TsuchidaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0001-7203-884X
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Hiroyuki MorinoDepartment of Medical Genetics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.ORCID http://orcid.org/0000-0002-5190-3547
Yuishin IzumiDepartment of Neurology, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
Maki UrushiharaDepartment of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.

Funding

Japan Agency for Medical Research and Development (AMED) JP24ek0109648Japan Agency for Medical Research and Development (AMED) JP24ek0109677Japan Agency for Medical Research and Development (AMED) JP24ek0109760
6 · The paper itself

Abstract

Here we report a heterozygous missense variant in the ACTB gene, NM_001101.5:c.209C>T (p.Pro70Leu), detected in a case of a mildly affected infant with Baraitser-Winter cerebrofrontofacial syndrome, characterized by unique craniofacial features, coloboma and mild developmental delay, but without lissencephaly. Baraitser-Winter cerebrofrontofacial syndrome cases with a similar mild phenotype have been reported to have the same variant in different populations, suggesting a genotype-phenotype correlation in this syndrome.

Identifiers

PMID40903467
PMCPMC12408805

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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.