Evidence map›Paper›PMID 42809161›Full record

ArticleNeurogenetics2026

Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome.

Kutlay Gür, Dilek Uludağ Alkaya, Nilay Güneş, Hilal Onur, Tanyel Zübarioğlu, Ayşe Ayzıt Kılınç Sakallı, Seha Kamil Saygılı, Ayça Kıykım, Cengiz Yalçınkaya, Beyhan Tüysüz

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In one paragraph

Article in Neurogenetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Kutlay GürCerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İstanbul University Cerrahpasa, İstanbul, Türkiye.ORCID http://orcid.org/0000-0001-6444-8101
Dilek Uludağ AlkayaCerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İstanbul University Cerrahpasa, İstanbul, Türkiye.ORCID http://orcid.org/0000-0002-0495-6152
Nilay GüneşCerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İstanbul University Cerrahpasa, İstanbul, Türkiye.ORCID http://orcid.org/0000-0002-7787-3630
Hilal OnurCerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İstanbul University Cerrahpasa, İstanbul, Türkiye.ORCID http://orcid.org/0009-0008-1361-7997
Tanyel ZübarioğluCerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Nutrition and Metabolism, İstanbul University Cerrahpasa, İstanbul, Türkiye.ORCID http://orcid.org/0000-0002-7159-4008
Ayşe Ayzıt Kılınç SakallıCerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Pulmonology, İstanbul University Cerrahpasa, İstanbul, Türkiye.ORCID http://orcid.org/0000-0002-2879-8910
Seha Kamil SaygılıCerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Nephrology, İstanbul University Cerrahpasa, İstanbul, Türkiye.ORCID http://orcid.org/0000-0002-2424-6959
Ayça KıykımCerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Allergy and Immunology, İstanbul University Cerrahpasa, İstanbul, Türkiye.ORCID http://orcid.org/0000-0001-5821-3963
Cengiz YalçınkayaCerrahpasa Faculty of Medicine, Department of Neurology, İstanbul University Cerrahpasa, İstanbul, Türkiye.ORCID http://orcid.org/0000-0002-3443-8524
Beyhan TüysüzCerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İstanbul University Cerrahpasa, İstanbul, Türkiye. beyhan.tuysuz@atlas.edu.tr.ORCID http://orcid.org/0000-0002-9620-5021

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Vacuolar protein sorting 16 (VPS16) functions in endolysosomal trafficking. Biallelic VPS16 variants cause a mucopolysaccharidosis-like syndrome reported in only four patients, with neurological involvement ranging from mild developmental delay to severe impairment with epilepsy and pyramidal signs. We report an additional patient biallelic for VPS16 NM_022575.4:c.2272-18 C > A, with profound developmental delay, early-onset epilepsy, and spasticity. Multisystem involvement included recurrent infections, neutropenia, serosal effusions, and tubular proteinuria. Brain MRI showed white-matter abnormalities, progressive cerebral and cerebellar atrophy, and symmetric signal changes in the globus pallidus and substantia nigra, suggestive of iron deposition, further expanding the neurological spectrum of this disorder.

Indexed as

MucopolysaccharidosesVesicular Transport ProteinsBrainDevelopmental DisabilitiesEpilepsyHumansMagnetic Resonance ImagingPhenotypeVesicular Transport ProteinsBrain diseases, metabolic, inbornDevelopmental disabilitiesEpilepsyMucopolysaccharidosesMuscle spasticityVPS16

Identifiers

PMID42809161

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.