Evidence map›Paper›PMID 40436836›Full record

ArticleHuman genome variation2025

De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications.

Yuri Moriura, Yosuke Nishio, Shintaro Ichimura, Haruka Noda, Yoshihiro Tanahashi, Hikaru Yamamoto, Yuka Nakazawa, Taichi Oso, Yoshiaki Sato, Toshiki Takenouchi and 3 more

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. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

13 authors.

Yuri Moriura *Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Yosuke Nishio *Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan. nishio.yousuke.f0@f.mail.nagoya-u.ac.jp.ORCID http://orcid.org/0000-0003-3543-7491
Shintaro IchimuraDivision of Neonatology, Center for Maternal-Neonatal Care, Nagoya University Hospital, Nagoya, Japan.
Haruka NodaDivision of Neonatology, Center for Maternal-Neonatal Care, Nagoya University Hospital, Nagoya, Japan.
Yoshihiro TanahashiDepartment of Pediatrics, TOYOTA Memorial Hospital, Toyota, Japan.
Hikaru YamamotoDepartment of Pediatrics, TOYOTA Memorial Hospital, Toyota, Japan.
Yuka NakazawaDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.ORCID http://orcid.org/0000-0002-3835-3093
Taichi OsoDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.ORCID http://orcid.org/0000-0001-8288-7829
Yoshiaki SatoDivision of Neonatology, Center for Maternal-Neonatal Care, Nagoya University Hospital, Nagoya, Japan.ORCID http://orcid.org/0000-0001-6320-9176
Toshiki TakenouchiDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan.ORCID http://orcid.org/0000-0002-7311-4135
Shinji SaitohDepartment of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.ORCID http://orcid.org/0000-0001-6911-3351
Yukako MuramatsuDepartment of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Tomoo OgiDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan. togi@riem.nagoya-u.ac.jp.ORCID http://orcid.org/0000-0002-5492-9072

Funding

Japan Agency for Medical Research and Development (AMED) JP22gk0110038Japan Agency for Medical Research and Development (AMED) JP23ek0109617Japan Agency for Medical Research and Development (AMED) JP23ek0109678
6 · The paper itself

Abstract

Beckwith-Wiedemann spectrum (BWSp) is a genomic imprinting disorder characterized by a wide range of clinical features. Here we report an infant with BWSp and atypical features, for whom long-read sequencing confirmed a de novo CDKN1C variant that occurred on the maternally inherited allele and excluded other genetic etiologies. These findings not only expand the BWSp concept but also highlight the potential value of allelic origin analysis in cases with atypical presentations.

Identifiers

PMID40436836
PMCPMC12120123

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