Evidence map›Paper›PMID 28017832›Full record

ReviewThe Journal of investigative dermatology2017

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

Robert Gruber, Clare Rogerson, Christian Windpassinger, Blerida Banushi, Anna Straatman-Iwanowska, Joanna Hanley, Federico Forneris, Robert Strohal, Peter Ulz, Debra Crumrine and 9 more

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

Review in The Journal of investigative dermatology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
4.4field-weighted citation impact, top 6% 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

22 citing papers in PubMed, 42 citations in OpenAlex.

  1. Epidermal lamellar bodies, essential organelles for the skin barrier.Frontiers in cell and developmental biology · 2025
    Review
  2. Review
  3. Article
  4. Syndromic ichthyoses.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023
    Article
  5. Review
  6. Article
  7. Two novel mutations inFrontiers in pediatrics · 2022
    Article
  8. Article
  9. Review
  10. Review
  11. Mucopolysaccharidosis-Plus Syndrome.International journal of molecular sciences · 2020
    Article
  12. Article
  13. Article
  14. [Syndromes with scales and keratosis].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2019
    Review
  15. A novel mutation inJIMD reports · 2019
    Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. 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

19 authors at 9 institutions in 4 countries.

Robert GruberDepartment of Dermatology, Medical University of Innsbruck, Innsbruck, Austria; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Clare RogersonMRC Laboratory for Molecular Cell Biology, University College London, London, UK; Institute of Child Health, University College London, London, UK.
Christian WindpassingerInstitute of Human Genetics, Medical University of Graz, Graz, Austria.
Blerida BanushiMRC Laboratory for Molecular Cell Biology, University College London, London, UK; Institute of Child Health, University College London, London, UK.
Anna Straatman-IwanowskaMRC Laboratory for Molecular Cell Biology, University College London, London, UK; Institute of Child Health, University College London, London, UK.
Joanna HanleyMRC Laboratory for Molecular Cell Biology, University College London, London, UK; Institute of Child Health, University College London, London, UK.
Federico FornerisThe Armenise-Harvard Laboratory of Structural Biology, Department of Biology and Biotechnology, University of Pavia, Pavia, Italy.
Robert StrohalDepartment of Dermatology, Academic Teaching Hospital Feldkirch, Feldkirch, Austria.
Peter UlzInstitute of Human Genetics, Medical University of Graz, Graz, Austria.
Debra CrumrineDepartment of Dermatology, Veterans Affairs Medical Center, University of California, San Francisco, California, USA.
Gopinathan K MenonCalifornia Academy of Sciences, San Francisco, California, USA.
Stefan BlunderDepartment of Dermatology, Medical University of Innsbruck, Innsbruck, Austria.
Matthias SchmuthDepartment of Dermatology, Medical University of Innsbruck, Innsbruck, Austria.
Thomas MüllerDepartment of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Holly SmithMRC Laboratory for Molecular Cell Biology, University College London, London, UK.
Kevin MillsInstitute of Child Health, University College London, London, UK.
Peter KroiselInstitute of Human Genetics, Medical University of Graz, Graz, Austria.
Andreas R JaneckeDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: andreas.janecke@i-med.ac.at.
Paul GissenMRC Laboratory for Molecular Cell Biology, University College London, London, UK; Institute of Child Health, University College London, London, UK; Inherited Metabolic Diseases Unit, Great Ormond Street Hospital, London, UK. Electronic address: p.gissen@ucl.ac.uk.
University College London · GBInnsbruck Medical University · ATMedical University of Graz · ATMRC Laboratory for Molecular Cell Biology · GBUniversität Innsbruck · ATCalifornia Academy of Sciences · USLandeskrankenhaus Feldkirch · ATUniversity of California, San Francisco · USUniversity of Pavia · IT

Funding

Medical Research Council MC_U122665002Medical Research Council MR/K015826/1Wellcome TrustWellcome Trust WT095662MA
6 · The paper itself

Abstract

In this paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and Rab25 proteins and is involved in trafficking of the collagen-modifying enzyme LH3. Two patients were homozygous for the missense variant p.Gly131Glu, whereas one patient was compound heterozygous for p.Gly131Glu and the splice site mutation c.240-1G>C, previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrome. We demonstrated the pathogenicity of variant p.Gly131Glu by assessing the interactions of the mutant VPS33B construct and its ability to traffic LH3. Compared with wild-type VPS33B, the p.Gly131Glu mutant VPS33B had reduced coimmunoprecipitation and colocalization with Rab11a and Rab25 and did not rescue LH3 trafficking. Confirming the cell-based experiments, we found deficient LH3-specific collagen lysine modifications in patients' urine and skin fibroblasts. Additionally, the epidermal ultrastructure of the p.Gly131Glu patients mirrored defects in tamoxifen-inducible VPS33B-deficient Vps33b

Indexed as

MutationAdolescentAdultAnimalsCollagenHearing Loss, SensorineuralHumansIchthyosis, LamellarKeratoderma, PalmoplantarMaleMicePrognosisrab11 GTP-Binding Proteinsrab GTP-Binding ProteinsRare DiseasesSampling StudiesCollagenrab11 GTP-Binding Proteinsrab GTP-Binding ProteinsVesicular Transport ProteinsVPS33B protein, human

Identifiers

PMID28017832
PMCPMC5358661
OpenAlexW2561577972

What OpenQuestion 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 OpenQuestion graph.