Evidence map›Paper›PMID 40055687›Full record

ArticleBMC medical genomics2025

Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation.

Amirreza Sabahizadeh, Amir Askarinejad, Saranaz Seyed AliAkbar, Mahdieh Soveizi, Golnaz Houshmand, Hojjat Mortezaeian, Amin Elahifar, Majid Maleki, Samira Kalayinia

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In one paragraph

Article in BMC medical genomics, 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

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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

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

9 authors.

Amirreza Sabahizadeh *Rajaie Cardiovascular Institute, Tehran, Iran.
Amir Askarinejad *Rajaie Cardiovascular Institute, Tehran, Iran.
Saranaz Seyed AliAkbarRajaie Cardiovascular Institute, Tehran, Iran.
Mahdieh SoveiziCardiogenetic Research Center, Rajaie Cardiovascular Institute, Tehran, Iran.
Golnaz HoushmandCardiovascular Imaging Research Center, Rajaie Cardiovascular Institute, Tehran, Iran.
Hojjat MortezaeianRajaie Cardiovascular Institute, Tehran, Iran.
Amin ElahifarRajaie Cardiovascular Institute, Tehran, Iran.
Majid MalekiCardiogenetic Research Center, Rajaie Cardiovascular Institute, Tehran, Iran.
Samira KalayiniaCardiogenetic Research Center, Rajaie Cardiovascular Institute, Tehran, Iran. samira.kalayi@yahoo.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMarfan syndrome (MFS) is a genetic disorder affecting connective tissue, with variable incidence rates. A significant portion of cases stems from novel genetic variants, while others inherit it from affected parents.

objectiveThis study focuses on identifying the genetic cause of MFS in a specific family, using whole-exome sequencing (WES).

methodsA 15-year-old male with confirmed MFS was examined, showing symptoms of palpitations and severe mitral valve regurgitation. WES was performed, followed by confirmation with Sanger sequencing. Variants were assessed for pathogenicity using bioinformatics tools and the American College of Medical Genetics and Genomics (ACMG) guidelines.

resultsOne potentially novel pathogenic variant was found in exon 14 of the FBN1 gene: c.1676delCinsAAT, p.Ala559GlufsTer21. In silico analysis suggested a deleterious impact on protein structure and function, supporting their pathogenic classification.

conclusionThe identification of this novel variant highlights the importance of the FBN1 gene in MFS, especially its cardiovascular manifestations. Early intervention can improve patient outcomes, while ongoing research holds promise for further advancements in treatment for Marfan syndrome.

Indexed as

AortaFibrillin-1Marfan SyndromeAdipokinesAdolescentExome SequencingHumansMalePedigreeAdipokinesFBN1 protein, humanFibrillin-1Aortic aneurysmCalcium-binding EGF-like domainsFBN1 geneMarfan syndromeMitral valve regurgitationWhole-exome sequencing

Identifiers

PMID40055687
PMCPMC11889773

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