ReviewJournal of human genetics2016
WDR45 mutations in three male patients with West syndrome.
Review in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 48 citations in OpenAlex.
- A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.Annals of clinical and translational neurology · 2026Article
- Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy.Medicina (Kaunas, Lithuania) · 2025Review
- Biotin Induces Inactive Chromosome X Reactivation and Corrects Physiopathological Alterations in Beta-Propeller-Protein-Associated Neurodegeneration.International journal of molecular sciences · 2025Article
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- Article
- Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability.CNS neuroscience & therapeutics · 2023Article
- Are Interictal Discharges Associated with Neuronal Cell Loss in Electrical Status Epilepticus in Sleep?Turkish archives of pediatrics · 2022Article
- Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.Journal of human genetics · 2022Article
- Quantitative retrospective natural history modeling ofAutophagy · 2022Article
- Review
- A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.Mammalian genome : official journal of the International Mammalian Genome Society · 2021Article
- West syndrome: a comprehensive review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Phenotypic and Imaging Spectrum Associated With WDR45.Pediatric neurology · 2020Article
- A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies.Epilepsy currents · 2020Article
- A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.Neuromolecular medicine · 2019Article
- Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.Movement disorders clinical practice · 2019Article
- Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.Clinical case reports · 2018Article
- Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.Epilepsia · 2018Article
- Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.American journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
14 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
West syndrome is an early-onset epileptic encephalopathy characterized by clustered spasms with hypsarrhythmia seen on electroencephalogram (EEG). West syndrome is genetically heterogeneous, and its genetic causes have not been fully elucidated. WD Repeat Domain 45 (WDR45) resides on Xp11.23, and encodes a member of the WD repeat protein interacting with phosphoinositides (WIPI) family, which is crucial in the macroautophagy pathway. De novo mutations in WDR45 cause beta-propeller protein-associated neurodegeneration characterized by iron accumulation in the basal ganglia. In this study, we performed whole exome sequencing of individuals with West syndrome and identified three WDR45 mutations in three independent males (patients 1, 2 and 3). Two novel mutations occurred de novo (patients 1 and 2) and the remaining mutation detected in a male patient (patient 3) and his affected sister was inherited from the mother, harboring the somatic mutation. The three male patients showed early-onset intractable seizures, profound intellectual disability and developmental delay. Their brain magnetic resonance imaging scans showed cerebral atrophy. We found no evidence of somatic mosaicism in the three male patients. Our findings indicate that hemizygous WDR45 mutations in males lead to severe epileptic encephalopathy.
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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.