ArticleHuman mutation2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06729554 (Education & Care in RARE - Efficacy of Targeted Psychoeducational Intervention to Improve Knowledge About Rare Diseases and to Promote Mental Health Among Pediatric Rare Disease Patients), which is not on this map. Cited by 35 papers.
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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.
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.
Education & Care in RARE - Efficacy of Targeted Psychoeducational Intervention to Improve Knowledge About Rare Diseases and to Promote Mental Health Among Pediatric Rare Disease Patients
Who cites it
35 citing papers in PubMed, 54 citations in OpenAlex.
- Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait.Global medical genetics · 2026Article
- A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.Neurogenetics · 2026Article
- Refining the Phenotypic and Genotypic Spectrum ofNeurology. Genetics · 2025Article
- Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.Cell communication and signaling : CCS · 2025Review
- Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.Molecular neurodegeneration · 2024Article
- WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration.Molecular biology of the cell · 2024Article
- Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy.medRxiv : the preprint server for health sciences · 2024Article
- WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration.bioRxiv : the preprint server for biology · 2024Article
- Branching out in different directions: Emerging cellular functions for the Arp2/3 complex and WASP-family actin nucleation factors.European journal of cell biology · 2023Article
- NovelFrontiers in molecular neuroscience · 2023Article
- Genetics of neurosarcoidosis.Journal of neuroimmunology · 2022Review
- WDR73 Depletion Destabilizes PIP4K2C Activity and Impairs Focal Adhesion Formation in Galloway-Mowat Syndrome.Biology · 2022Article
- Skin Conditions and Movement Disorders: Hiding in Plain Sight.Movement disorders clinical practice · 2022Review
- Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.Frontiers in genetics · 2022Article
- Article
- Neurological involvement in monogenic podocytopathies.Pediatric nephrology (Berlin, Germany) · 2021Review
- A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.Scientific reports · 2021Article
- Mutations inJournal of the American Society of Nephrology : JASN · 2021Article
- Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group.European journal of human genetics : EJHG · 2020Article
Corrections and comments
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Authors and funding
23 authors at 12 institutions in 7 countries.
Funding
Abstract
Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. Very recently, WDR73 deficiency was identified as the cause of GMS in five individuals. To evaluate the role of WDR73 mutations as a cause of GMS and other forms of syndromic CA, we performed Sanger or exome sequencing in 51 unrelated patients with CA and variable brain anomalies and in 40 unrelated patients with a diagnosis of GMS. We identified 10 patients from three CA and from two GMS families with WDR73 mutations including the original family described with CA, mental retardation, optic atrophy, and skin abnormalities (CAMOS). There were five novel mutations, of which two were truncating and three were missense mutations affecting highly conserved residues. Individuals carrying homozygous WDR73 mutations mainly presented with a pattern of neurological and neuroimaging findings as well as intellectual disability, while kidney involvement was variable. We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration.
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Registered trials
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.