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Author

R. Rius

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Open access Oct 2026

Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction.

The PIKfyve-FIG4-VAC14 lipid kinase complex generates phosphoinositide PI(3,5)P2. Pathogenic variants in VAC14 and FIG4 cause neurodevelopmental disorders and PIKFYVE has been linked to autosomal dominant fleck corneal dystrophy. We searched for the underlyging, genetic cause of a neurodevelopmental disorder in five af...

L. Averdunk, Martin Groß, Anne Hamacher et al. · 0 citations
Review Aug 2026

Biallelic IRAK4 Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype

Six patients from five unrelated families with biallelic, rare IRAK4 variants presenting with severe, persistent autoinflammation without immunodeficiency are identified and a strongly concordant clinical and radiological phenotype emerges of IRAK4-mediated autoinflammation, expanding the phenotypic and mutational spec...

E. Wiener, R. Rius, C. D. Dominguez Gonzalez et al. · 0 citations
Open access Aug 2026

Challenges in Classification of PKD1 Missense Variation in Autosomal Dominant Polycystic Kidney Disease

A large majority of PKD1 missense variants are classified as VUS with current pathogenicity criteria, and commonly used silico tools, applied with established genome-wide thresholds, do not reliably distinguish pathogenic and benign missense variants in PKD1.

N. Lehmann, S. Koo, Y. Hort et al. · 0 citations

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