Evidence map›Paper›PMID 35997841›Full record

ArticleMolecular genetics and genomics : MGG2022

Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report.

Suman Kalyan Paine, Subrata Das, Chandrika Bhattacharyya, Nidhan Kumar Biswas, Raghavendra Rao, Abhishek De, Analabha Basu

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Molecular genetics and genomics : MGG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 47% 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, 3 citations in OpenAlex.

  1. Article
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.

Suman Kalyan Paine *National Institute of BioMedical Genomics, Kalyani, India.
Subrata Das *National Institute of BioMedical Genomics, Kalyani, India.
Chandrika Bhattacharyya *National Institute of BioMedical Genomics, Kalyani, India.
Nidhan Kumar BiswasNational Institute of BioMedical Genomics, Kalyani, India.
Raghavendra RaoKMC, Manipal, India.
Abhishek DeInstitute of Post Graduate Medical Education and Research, Kolkata, India.
Analabha BasuNational Institute of BioMedical Genomics, Kalyani, India. ab1@nibmg.ac.in.ORCID http://orcid.org/0000-0002-1564-0284
National Institute of Biomedical Genomics · INInstitute of Post Graduate Medical Education and Research · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Epidermolysis-Bullosa (EB), a rare Mendelian disorder, exhibits complex phenotypic and locus-heterogeneity. We identified a nuclear family of clinically unaffected parents with two offsprings manifesting EB-Pyloric-Atresia (EB-PA), with a variable clinical severity. We generated whole exome sequence data on all four individuals to (1) identify the causal mutation behind EB-PA (2) understand the background genetic variation for phenotype variability of the siblings. We assumed an autosomal recessive mode of inheritance and used suites of bioinformatic and computational tools to collate information through global databases to identify the causal genetic variant for the disease. We also investigated variations in key genes that are likely to impact phenotype severity. We identified a novel missense mutation in the ITGB4 gene (p.Ala1227Asp), for which the parents were heterozygous and the children homozygous. The mutation in ITGB4 gene, predicted to reduce the stability of the primary alpha6beta4-plectin complex compared to all previously studied mutations on ITGB4 reported to cause EB.

Indexed as

Ectodermal DysplasiaEpidermolysis BullosaGastric Outlet ObstructionHumansIntegrin beta4MutationMutation, MissensePlectinPylorusIntegrin beta4ITGB4 protein, humanPlectinChromosome 17ENSP00000200181:p.Ala1227AspEpidermolysis bullosa-pyloric-atresiaExome sequencingITGB4

Identifiers

PMID35997841
OpenAlexW4292730937

What OpenQuestion holds

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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 OpenQuestion graph.