Evidence map›Paper›PMID 40721798›Full record

ArticleOrphanet journal of rare diseases2025

Lessons learned from a muscle study in nail-patella syndrome.

Luisa Paul, Anne Schänzer, Christel Depienne, Andreas Hentschel, Nicolai Kohlschmidt, Ulrike Schara-Schmidt, Christopher Jannik Nelke, Andreas Roos, Heike Kölbel

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Luisa PaulDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany.ORCID 0009-0006-8378-7997
Anne SchänzerInstitute of Neuropathology, Justus-Liebig-University Giessen, Giessen, Germany.
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Andreas HentschelLeibniz Institute für Analytische Wissenschaften - ISAS - e.V., Dortmund, Germany.
Nicolai KohlschmidtInstitute of Clinical Genetics and Tumour Genetics, Bonn, Germany.
Ulrike Schara-SchmidtDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany.
Christopher Jannik NelkeInstitute of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Andreas RoosDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany.
Heike KölbelDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany. heike.koelbel@uk-essen.de.ORCID 0000-0001-9629-7053

Funding

“Bundesministerium für Bildung und Forschung”“Deutsche Gesellschaft für Muskelkranke (DGM)”European Regional Development Fund (ERDF; project NME-GPS)“Ministerium für Kultur und Wissenschaft des Landes Nordrhein-Westfalen,”Open Access Publication Fund of the University of Duisburg-EssenProjekt DEAL“Regierenden Bürgermeister von Berlin—Senatskanzlei Wissenschaft und Forschung,”The Department of Neuropediatrics is a member of the European Reference Network (ERN) for Neuromuscular Diseases
6 · The paper itself

Abstract

backgroundNail-patella (NPS) syndrome is an autosomal dominant disorder caused by mutations in the LMX1B gene and manifests with involvement of kidneys, nails, eyes as well as skeletal musculature. NPS shows some clinical similarities with Emery-Dreifuss muscular dystrophy. However, thus far human muscle tissue has not been analysed in the context of NPS to precisely clarify the muscular involvement in this multi-systemic disease.

methodsTo study the effects of a missense variant in LMX1B on human skeletal muscle, histological, immunofluorescence and ultra-structural studies were performed on a deltoid muscle biopsy performed at the age of 2 aiming to analyse potential pathologies in muscle fibres in addition to unbiased proteomic profiling to identify dysregulated proteins.

resultsMicroscopic work-up of the muscle biopsy revealed no striking pathologies, except for some atrophic fibres. The proteomic analyses unveiled a clustered number of dysregulated keratin proteins among the downregulated proteins.

conclusionAlthough NPS can also present with a muscular phenotype indicated by muscular weakness of the upper extremities, elevated CK levels and contractures of the elbow joint, there is no evidence of primary muscular involvement due to expression of mutant LMX1B. The examination of human skeletal muscle tissue confirmed the findings from the animal models showing that the skeletal muscle symptoms of NPS may be the result of a developmental disorder of the extremities that leads to impaired muscle mobilisation.

Indexed as

Muscle, SkeletalNail-Patella SyndromeAnimalsChild, PreschoolFemaleHumansLIM-Homeodomain ProteinsMaleProteomicsTranscription FactorsLIM homeobox transcription factor 1 betaLIM-Homeodomain ProteinsTranscription FactorsElbow contracturesEmery dreyfuss muscle dystrophyLMX1BMuscle proteomicsNail-patella syndrome

Identifiers

PMID40721798
PMCPMC12306095

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