Evidence map›Paper›PMID 33688495›Full record

ArticleBioMed research international2021

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in

Ghazanfar Ali, Sadia, Jia Nee Foo, Abdul Nasir, Chu-Hua Chang, Elaine GuoYan Chew, Zahid Latif, Zahid Azeem, Syeda Ain-Ul-Batool, Syed Akif Raza Kazmi and 9 more

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

Article in BioMed research international, 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
0.3field-weighted citation impact, top 35% 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

19 authors at 7 institutions in 3 countries.

Ghazanfar AliDepartment of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.ORCID https://orcid.org/0000-0002-6172-9503
SadiaDepartment of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.ORCID https://orcid.org/0000-0001-8270-2134
Jia Nee FooLee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, Singapore 308232.
Abdul NasirMolecular Science and Technology, Ajou University, Suwon, Republic of Korea.ORCID https://orcid.org/0000-0002-2339-3500
Chu-Hua ChangLee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, Singapore 308232.
Elaine GuoYan ChewLee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, Singapore 308232.
Zahid LatifDepartment of Zoology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.ORCID https://orcid.org/0000-0003-4335-7950
Zahid AzeemDepartment of Biochemistry/Molecular Biology AJK Medical College, Muzaffarabad, Pakistan.
Syeda Ain-Ul-BatoolDepartment of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.ORCID https://orcid.org/0000-0003-1427-1197
Syed Akif Raza KazmiDepartment of Chemistry Government College University Lahore, Pakistan.ORCID https://orcid.org/0000-0001-6650-5747
Naheed Bashir AwanDepartment of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
Abdul Hameed KhanDepartment of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.ORCID https://orcid.org/0000-0002-8888-3076
Fazal-Ur- RehmanDepartment of Microbiology, Faculty of Life Sciences, University of Balochistan, Quetta, Pakistan.ORCID https://orcid.org/0000-0002-8006-0622
Madiha KhalidDepartment of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.ORCID https://orcid.org/0000-0003-0728-1709
Abdul WaliDepartment of Biotechnology, Faculty of Life Sciences and Informatics, BUITEMS, 87100 Quetta, Pakistan.ORCID https://orcid.org/0000-0001-8818-5369
Samina SarwarDepartment of Zoology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.ORCID https://orcid.org/0000-0002-5960-5843
Wasim AkhtarDepartment of Botany, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
Ansar Ahmed AbbasiDepartment of Zoology, Mirpur University of Science and Technology (MUST), Mirpur AJK, Pakistan.
Rameez NisarDepartment of Zoology, Mirpur University of Science and Technology (MUST), Mirpur AJK, Pakistan.
University of Azad Jammu and Kashmir · PKAgency for Science, Technology and Research · SGMirpur University of Science and Technology · PKAjou University · KRBalochistan University of Information Technology, Engineering and Management Sciences · PKGovernment College University, Lahore · PKUniversity of Balochistan · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBardet-Biedl syndrome (BBS) is a rare autosomal recessive inherited disorder with distinctive clinical feature such as obesity, degeneration of retina, polydactyly, and renal abnormalities. The study was aimed at finding out the disease-causing variant/s in patients exhibiting clinical features of BBS.

methodsThe identification of disease-causing variant was done by using whole exome sequencing on Illumina HiSeq 4000 platform involving the SeqCap EZ Exome v3 kit (Roche NimbleGen). The identified variant was further validated by Sanger sequencing.

resultsWES revealed a novel homozygous missense mutation (NM_031885: c.443A>T:p.N148I) in exon 3 of the

conclusionClinical and genetic spectrum of BBS and BBS-like disorders is not completely defined in the Pakistani as well as in Kashmiri population. Therefore, more comprehensive genetic studies are required to gain insights into genotype-phenotype associations to facilitate carrier screening and genetic counseling of families with such disorders.

Indexed as

HomozygoteMutation, MissensePedigreeAdultAmino Acid SubstitutionBardet-Biedl SyndromeFemaleHumansIndiaMaleProteinsBbs2 protein, humanProteins

Identifiers

PMID33688495
PMCPMC7925018
OpenAlexW3129216531

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 Socratic graph.