Evidence map›Paper›PMID 37829154›Full record

ArticleGenetics research2023

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.

Ghazanfar Ali, Sadia Sadia, Syeda Ain-Ul-Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur-Rehman, Zeeshan Anjum, Fazal- Ur-Rehman, Abdul Wali and 5 more

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Article in Genetics research, 2023. 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 40% of its field
1 · What the graph read from it

What it found

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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

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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

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5 · Who and what money

Authors and funding

15 authors at 7 institutions in 1 country.

Ghazanfar AliDepartment of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.ORCID 0000-0002-6172-9503
Sadia SadiaDepartment of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.ORCID 0000-0001-8270-2134
Syeda Ain-Ul-BatoolDepartment of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
Zahid AzeemDepartment of Biochemistry, Azad Jammu and Kashmir Medical College, Muzaffarabad, Pakistan.
Naheed Bashir AwanDepartment of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.ORCID 0000-0001-9142-2265
Syed Akif Raza KazmiDepartment of Chemistry, Government College University, Lahore, Pakistan.ORCID 0000-0001-6650-5747
Zia- Ur-RehmanPir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.
Zeeshan AnjumDepartment of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.ORCID 0000-0003-2416-2402
Fazal- Ur-RehmanDepartment of Microbiology, Faculty of Life Sciences, University of Balochistan, Quetta, Pakistan.
Abdul WaliDepartment of Biotechnology, Faculty of Life Sciences and Informatics, BUITEMS, 87100, Quetta, Pakistan.ORCID 0000-0001-8818-5369
Kafaitullah KhanDepartment of Microbiology, Faculty of Life Sciences, University of Balochistan, Quetta, Pakistan.ORCID 0000-0001-9652-9061
Nasib ZamanCentre for Biotechnology and Microbiology University of Swat, Swat, Pakistan.
Muhammad AyubInstitute of Biochemistry, University of Balochistan, Quetta, Pakistan.
Muhammad SajidDepartment of Pathology, College of Veterinary and Animal Sciences, Jhang Sub Campus of University of Veterinary and Animal Sciences Lahore, Lahore, Pakistan.
Noor HassanInstitute of Biochemistry, University of Balochistan, Quetta, Pakistan.
University of Azad Jammu and Kashmir · PKUniversity of Balochistan · PKBalochistan University of Information Technology, Engineering and Management Sciences · PKGovernment College University, Lahore · PKPir Mehr Ali Shah Arid Agriculture University · PKUniversity of Swat · PKUniversity of Veterinary and Animal Sciences · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.(Gln61

Indexed as

Cleft LipEctodermal DysplasiaJaw AbnormalitiesNectinsSyndactylyAlopeciaCell Adhesion MoleculesCodon, NonsenseConsanguinityHumansMutationPedigreePhenotypeSouth Asian PeopleSyndromeCell Adhesion MoleculesCodon, NonsenseNECTIN4 protein, humanNectins

Identifiers

PMID37829154
PMCPMC10567209
OpenAlexW4387345347

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LicenceCC BY
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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.