Evidence map›Paper›PMID 35150401›Full record

ArticleGenes & genomics2023

Description of novel variants in consanguineous Pakistani families affected with intellectual disability.

Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Irfan Ahmed, Muhammad Iqbal, Shehla Shafqat, Aftab Ahmad Anjum, Wasim Shehzad

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In one paragraph

Article in Genes & genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 42% 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

1 citing paper in PubMed, 1 synthesis or guideline pooled it, 1 citations in OpenAlex.

  1. Pooled it
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

7 authors at 2 institutions in 1 country.

Iqra Ghulam RasoolMolecular Biology and Biotechnology Section, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan.
Muhammad Yasir ZahoorMolecular Biology and Biotechnology Section, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan. yasir.zahoor@uvas.edu.pk.
Irfan AhmedMolecular Biology and Biotechnology Section, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan.
Muhammad IqbalDepartment of Biotechnology, The Islamia University of Bahawalpur, Bahawalpur, Pakistan.
Shehla ShafqatDepartment of Biotechnology, The Islamia University of Bahawalpur, Bahawalpur, Pakistan.
Aftab Ahmad AnjumInstitute of Microbiology, University of Veterinary and Animal Sciences, Lahore, Pakistan.
Wasim ShehzadMolecular Biology and Biotechnology Section, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan.
University of Veterinary and Animal Sciences · PKIslamia University of Bahawalpur · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIntellectual disability (ID) is a neurodevelopmental condition, affecting 1-3% of the population. Genetic factors play a key role causing the limitation in intellectual functioning and adaptive behavior. The heterogeneity of ID makes it more difficult for genetic and clinical diagnosis. Mapping of variants through next generation DNA sequencing in consanguineous families would help to understand the molecular parthenogenesis of ID.

objectiveThe aim of this study was to describe the genetic variants of ID in consanguineous Pakistani families.

methodsWe analyzed four unrelated consanguineous Pakistani families having an intellectual disability through whole exome sequencing (WES). Data was analyzed using different bioinformatics tools and software.

resultsWe mapped four novel variants in different ID genes. Each variant is found in different family, co-segregating with a recessive pattern of inheritance. The variants found are; c.1437delG:p.Asn480Thrfs*10, mapped in FKRP, c.2041 C>A:p.Leu681Met in HIRA, c.382 C>T:p.Arg128Cys in BDH1 and c.267+1G>A:p.? identified in TRAPPC6B.

conclusionsThese variants help in demonstration of status and molecular basis of intellectual disability in Pakistani population leading to provision of genetic counseling services and a contribution in disease variant database.

Indexed as

Intellectual DisabilityConsanguinityHomozygoteHumansPakistanPedigreePentosyltransferasesVesicular Transport ProteinsFKRP protein, humanPentosyltransferasesTRAPPC6B protein, humanVesicular Transport ProteinsConsanguinityIntellectual disabilityMutationsRecessive variantsWhole exome sequencing

Identifiers

PMID35150401
OpenAlexW4211049905

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Registered trials

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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.