Evidence map›Paper›PMID 36241656›Full record

ArticleScientific reports2022

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Bushra Rauf, Shahid Y Khan, Xiaodong Jiao, Bushra Irum, Ramla Ashfaq, Mubashra Zehra, Asma A Khan, Muhammad Asif Naeem, Mohsin Shahzad, Sheikh Riazuddin and 2 more

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

Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.4field-weighted citation impact, top 20% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

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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

12 authors at 5 institutions in 2 countries.

Bushra Rauf *The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA.
Shahid Y Khan *The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA.
Xiaodong Jiao *Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Bushra IrumThe Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA.
Ramla AshfaqNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Mubashra ZehraNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Asma A KhanNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Muhammad Asif NaeemNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Mohsin ShahzadJinnah Burn and Reconstructive Surgery Centre, Allama Iqbal Medical College, University of Health Sciences, Lahore, 54550, Pakistan.
Sheikh RiazuddinNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
J Fielding HejtmancikOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
S Amer RiazuddinThe Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA. riazuddin@jhmi.edu.
Centre of Excellence in Molecular Biology · PKJohns Hopkins University · USUniversity of the Punjab · PKNational Institutes of Health · USUniversity of Health Sciences Lahore · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

To delineate the genetic bases of primary congenital glaucoma (PCG), we ascertained a large cohort consisting of 48 consanguineous families. Of these, we previously reported 26 families with mutations in CYP1B1 and six families with LTBP2, whereas the genetic bases responsible for PCG in 16 families remained elusive. We employed next-generation whole exome sequencing to delineate the genetic basis of PCG in four of these 16 familial cases. Exclusion of linkage to reported PCG loci was established followed by next-generation whole exome sequencing, which was performed on 10 affected individuals manifesting cardinal systems of PCG belonging to four unresolved families along with four control samples consisting of genomic DNAs of individuals harboring mutations in CYP1B1 and LTBP2. The analyses of sequencing datasets failed to identify potential causal alleles in the 10 exomes whereas c.1169G > A (p. Arg390His) in CYP1B1 and c.3427delC (p.Gln1143Argfs*35) in LTBP2 were identified in the control samples. Taken together, next-generation whole exome sequencing failed to delineate the genetic basis of PCG in familial cases excluded from mutations in CYP1B1 and LTBP2. These data strengthen the notion that compound heterozygous coding variants or non-coding variants might contribute to PCG.

Indexed as

ExomeGlaucomaConsanguinityExome SequencingHumansLatent TGF-beta Binding ProteinsMutationLatent TGF-beta Binding ProteinsLTBP2 protein, human

Identifiers

PMID36241656
PMCPMC9568502
OpenAlexW4306168912

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Registered trials

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