Evidence map›Paper›PMID 39790012›Full record

ArticleThe British journal of dermatology2025

Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

Pirunthan Pathmarajah, Edward Eid, Jaron Nazaroff, Jodi So, Vaishali Mittal, Nicki Harris, Shufeng Li, Anne W Lucky, Emily S Gorell, Kathleen G Peoples and 15 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The British journal of dermatology, 2025. 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
–field-weighted citation impact
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

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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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

25 authors.

Pirunthan PathmarajahDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Edward EidDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Jaron NazaroffDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-4267-6776
Jodi SoDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Vaishali MittalDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Nicki HarrisDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Shufeng LiDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Anne W Lucky
Emily S Gorell
Kathleen G Peoples
Elena Pope
Irene Lara-Corrales
Amy S Paller
Karen Wiss
Marissa J Perman
Lawrence F Eichenfield
Moise L Levy
Kimberly D Morel
Maria T García-Romero
Catherine C McCuaig
Melissa Saber
M Peter MarinkovichDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Anthony OroDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Anna L Bruckner
Jean Y TangDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-5510-6502

Funding

Colorado Clinical and Translational Sciences Institute (CCTSI)UM1TR004399 · NCATS · UNIVERSITY OF COLORADO DENVER · PI JANINE A HIGGINS, RONALD J. SOKOL · 2023 to 2026
$30.7M
Chromatin Dynamics During Epithelial CommitmentR01AR073170 · NIAMS · STANFORD UNIVERSITY · PI Anthony E Oro · 2019 to 2026
$4.4M
andEpidermolysis Bullosa Research PartnershipNCATS NIH HHS UM1 TR004399NIAMS NIH HHS R01 AR073170
6 · The paper itself

Abstract

backgroundRecessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder caused by pathogenic variants in COL7A1.

objectivesTo determine the association between different COL7A1 variants and clinical disease severity in 236 North American patients with RDEB.

methodsPublished reports or in silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function. Three impact categories were postulated: genotypes that would be likely to cause a low impact on C7 function (splice B/missense, missense/missense); a medium impact [premature termination codon (PTC)/splice B, splice A/splice B, PTC/missense, splice A/missense, splice B/splice B]; and a high impact (PTC/PTC, PTC/splice A, splice A/splice A). Splice A variants are predicted to cause downstream PTCs, while splice B variants cause in-frame exon skipping and are therefore less deleterious.

resultsThe severity of functional impact was significantly associated with a history of gastrostomy tube placement, oesophageal dilation, hand surgery, anaemia, renal disease, chronic wounds, diffuse skin involvement and a history of squamous cell carcinoma. The odds of death were 3.5 time higher in the high-impact vs. medium-impact group (95% confidence interval 1.24-8.50; P = 0.02). Patients in the high-impact group had worse clinical outcomes.

conclusionsFunctional genotype categories are a feasible approach to risk-stratify patients based on predicted C7 function.

Indexed as

Collagen Type VIIEpidermolysis Bullosa DystrophicaAdolescentAdultChildChild, PreschoolFemaleGenotypeHumansInfantMaleMiddle AgedSeverity of Illness IndexYoung AdultCOL7A1 protein, humanCollagen Type VII

Identifiers

PMID39790012
PMCPMC12036767

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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.