Evidence map›Paper›PMID 32968423›Full record

ArticlePakistan journal of medical sciences

Whole exome sequencing reveals a homozygous nonsense mutation in

Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Mohammed Mohammed Jan, Adeel G Chaudhary, Mohammad H Al-Qahtani

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

Article in Pakistan journal of medical sciences. 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, top 91% 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, 2 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

5 authors at 1 institution in 2 countries.

Muhammad Imran NaseerMuhammad Imran Naseer, Center of Excellence in Genomic Medicine Research, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, 21589, Jeddah, Saudi Arabia.
Angham Abdulrahman AbdulkareemAngham Abdulrahman Abdulkareem, Biochemistry Department, Faculty of Science, King Abdulaziz University, 21589, Jeddah, Saudi Arabia.
Mohammed Mohammed JanMohammed Mohammed Jan, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, 21589, Jeddah, Saudi Arabia.
Adeel G ChaudharyAdeel G. Chaudhary, Center of Excellence in Genomic Medicine Research, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Center for Innovation in Personalized Medicine, King Abdulaziz University Hospital, Jeddah Saudi Arabia. King Abdulaziz University, 21589, Jeddah, Saudi Arabia.
Mohammad H Al-QahtaniMohammad H. Al-Qahtani, Center of Excellence in Genomic Medicine Research, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, 21589, Jeddah, Saudi Arabia.
King Abdulaziz University · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo study the causative variants in affected member of a Saudi family with Tay-Sachs disorder. This disorder includes paralysis, decreasing in attentiveness, seizures, blindness, motor deterioration progresses rapidly leading to a completely unresponsive state and a cherry-red spot visible on the eye.

methodsWhole exome sequencing (WES) and Sanger sequencing was performed to study the variant leading to the disease.

resultsWES data analysis and Sanger sequencing validation, identifies a homozygous nonsense mutation c.1177C>T, p.Arg393Ter as a result in protein change. This mutation was also studied in 100 unrelated healthy controls.

conclusionsWe detected homozygous mutation in

Indexed as

HEXA geneNeurodegenerative disorder inheritedSaudi FamilyTay-Sachs disease

Identifiers

PMID32968423
PMCPMC7501024
OpenAlexW3047251367

What OpenQuestion holds

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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.