Evidence map›Paper›PMID 40999194›Full record

ArticleEuropean journal of human genetics : EJHG2026

A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy.

Liedewei Van de Vondel, Jonathan De Winter, Alice Monticelli, Natacha Camacho, Tine Deconinck, Katrien Janssens, Goedele Malfroid, Alicia Alonso-Jiménez, German Demidov, Steven Laurie and 4 more

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In one paragraph

Article in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

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

2 citing papers in PubMed.

  1. Article
  2. New year, new insights in genomic medicine.European journal of human genetics : EJHG · 2026
    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

14 authors.

Liedewei Van de VondelTranslational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.ORCID 0000-0003-2214-5908
Jonathan De WinterTranslational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Alice MonticelliTranslational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Natacha CamachoLaboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Tine DeconinckDepartment of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium.
Katrien JanssensDepartment of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium.
Goedele MalfroidDepartment of Neurology, Geel General Hospital, Ziekenhuis Netwerk Kempen, Ziekenhuis Geel, Belgium.
Alicia Alonso-JiménezTranslational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.ORCID 0000-0002-2200-9255
German DemidovInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID 0000-0001-9075-4276
Steven LaurieCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.ORCID 0000-0003-3913-5829
Willem De RidderTranslational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Biljana ErmanoskaTranslational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Vincent TimmermanLaboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.ORCID 0000-0002-2162-0933
Jonathan BaetsTranslational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium. Jonathan.baets@uantwerpen.be.ORCID 0000-0001-8295-5385

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a family affected with childhood onset distal muscle weakness with a heterozygous chromosome 9q34 deletion encompassing the SPTAN1 gene. The deletion was detected through exome-sequencing based copy number variant (CNV) detection, segregates in four patients and is non-penetrant in two other relatives. Electromyography, muscle MRI and muscle biopsy revealed a myopathic disease phenotype. Cellular consequences of the deletion were investigated using qPCR and western blotting on patient-derived fibroblasts, which revealed a reduction of RNA but not protein levels. Immunocytochemistry was performed on muscle tissue which did not reveal reduction of α-II-spectrin. SPTAN1 loss-of-function variants have previously been reported to cause distal hereditary motor neuropathy and recently distal myopathy. Here, we confirm the role of SPTAN1 haploinsufficiency as a cause of distal myopathy. We propose an age-dependent lack of α-II-spectrin and suggest CNV detection in repurposed exome sequencing as an important diagnostic tool.

Indexed as

Chromosome DeletionChromosomes, Human, Pair 9Distal MyopathiesLIM Domain ProteinsAdultChildDNA Copy Number VariationsFemaleHaploinsufficiencyHeterozygoteHumansMaleMuscle, SkeletalPedigreeLIM Domain Proteins

Identifiers

PMID40999194
PMCPMC12816739

What OpenQuestion holds

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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.