Evidence map›Paper›PMID 42285929›Full record

ArticleHuman genome variation2026

A novel truncating FBN1 variant in a family with Marfan syndrome.

Yuka Ito, Hiroshi Suzumura, Yuko Tanaka, George Imataka, Shujiro Hayashi, Yoshimasa Kawarai, Hiroko Susaka, Miyuki Muramatsu, Hiromi Yuasa, Wakana Soeda and 4 more

Abstract read
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In one paragraph

Article in Human genome variation, 2026. 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

14 authors.

Yuka ItoDepartment of Genetic Diagnosis and Laboratory Medicine, Dokkyo Medical University, Tochigi, Japan. yuka-ito@dokkyomed.ac.jp.ORCID http://orcid.org/0009-0006-4780-426X
Hiroshi SuzumuraDepartment of Pediatrics, Dokkyo Medical University, Tochigi, Japan.
Yuko TanakaDivision of Clinical Genetics, Dokkyo Medical University Hospital, Tochigi, Japan.
George ImatakaDepartment of Pediatrics, Dokkyo Medical University, Tochigi, Japan.
Shujiro HayashiDivision of Clinical Genetics, Dokkyo Medical University Hospital, Tochigi, Japan.
Yoshimasa KawaraiDivision of Clinical Genetics, Dokkyo Medical University Hospital, Tochigi, Japan.
Hiroko SusakaDivision of Clinical Genetics, Dokkyo Medical University Hospital, Tochigi, Japan.
Miyuki MuramatsuDivision of Clinical Genetics, Dokkyo Medical University Hospital, Tochigi, Japan.
Hiromi YuasaDepartment of Hematology and Oncology, Dokkyo Medical University, Tochigi, Japan.
Wakana SoedaDepartment of Obstetrics and Gynecology, Dokkyo Medical University, Tochigi, Japan.
Sakae ItoDepartment of Ophthalmology, Dokkyo Medical University, Tochigi, Japan.
Takahiko KogaiDepartment of Genetic Diagnosis and Laboratory Medicine, Dokkyo Medical University, Tochigi, Japan.
Takahiro YamadaDivision of Clinical Genetics, Hokkaido University Hospital, Hokkaido, Japan.ORCID http://orcid.org/0000-0002-5370-7873
Katsuhiko NaruseDivision of Clinical Genetics, Dokkyo Medical University Hospital, Tochigi, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Marfan syndrome is caused by pathogenic variants in FBN1. We identified a novel heterozygous frameshift variant in FBN1 (NM_000138.5: c.6784_6787del, NP_000129.3:p.(Gln2262TrpfsTer28)) in an adult male with severe cardiovascular manifestations. The variant was absent from population databases and fulfilled PVS1 and PM2 criteria. This finding expands the mutational and phenotypic spectrum of FBN1 and highlights the clinical utility of genetic testing in family-based clinical management of Marfan syndrome.

Identifiers

PMID42285929
PMCPMC13538617

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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.