Evidence map›Paper›PMID 34946863›Full record

ArticleGenes2021

Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.

Nadia Farooqi, Louise A Metherell, Isabelle Schrauwen, Anushree Acharya, Qayum Khan, Liz M Nouel Saied, Yasir Ali, Hamed A El-Serehy, Fazal Jalil, Suzanne M Leal

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2021. 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
0.2field-weighted citation impact, top 37% of its field
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, 1 citations in OpenAlex.

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

10 authors at 4 institutions in 4 countries.

Nadia FarooqiDepartment of Biotechnology, Faculty of Chemical and Life Sciences, Abdul Wali Khan University, Mardan 23200, Pakistan.
Louise A MetherellCentre for Endocrinology, William Harvey Research Institute, Charterhouse Square Campus, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.ORCID 0000-0002-0530-3524
Isabelle SchrauwenCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Anushree AcharyaCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Qayum KhanDepartment of Biotechnology, Faculty of Chemical and Life Sciences, Abdul Wali Khan University, Mardan 23200, Pakistan.
Liz M Nouel SaiedCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.ORCID 0000-0003-0378-7788
Yasir AliDepartment of Biotechnology, Faculty of Chemical and Life Sciences, Abdul Wali Khan University, Mardan 23200, Pakistan.ORCID 0000-0001-8895-7808
Hamed A El-SerehyDepartment of Zoology, College of Science, King Saud University, Riyadh I1451, Saudi Arabia.ORCID 0000-0002-7686-0010
Fazal JalilDepartment of Biotechnology, Faculty of Chemical and Life Sciences, Abdul Wali Khan University, Mardan 23200, Pakistan.ORCID 0000-0002-3372-4457
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Abdul Wali Khan University Mardan · PKColumbia University Irving Medical Center · USKing Saud University · SAQueen Mary University of London · GB

Funding

Medical Research Council MR/K020455/1
6 · The paper itself

Abstract

introductionCardiomyopathies are diseases of the heart muscle and are important causes of heart failure. Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy that can be acquired, syndromic or non-syndromic. The current study was conducted to explore the genetic defects in a Pakistani family with cardiac disease and features of Marfan's syndrome (MFS).

methodsA family with left ventricle (LV) diastolic dysfunction and MFS phenotype was assessed in Pakistan. The clinical information and blood samples from the patients were collected after physical, cardiovascular, and ophthalmologic examinations. An affected individual (proband) was subjected to whole-exome sequencing (WES). The findings were further validated through Sanger sequencing in the family.

resultsThrough WES and sanger validation, we identified a novel variant NM_000138.4; c.1402A>G in the Fibrillin-1 (

conclusionsThis study identified for the first time a novel

Indexed as

Genetic Predisposition to DiseaseMutationAdipokinesAdolescentCardiomyopathiesExome SequencingFemaleFibrillin-1HumansMaleMarfan SyndromeMiddle AgedPakistanPedigreeVentricular Dysfunction, LeftAdipokinesFBN1 protein, humanFibrillin-1cardiovascular diseasesdilated cardiomyopathyleft ventricular diastolic dysfunctionMarfan syndromewhole exome sequencing

Identifiers

PMID34946863
PMCPMC8700962
OpenAlexW3216681953

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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 OpenQuestion graph.