ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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18 citing papers in PubMed, 34 citations in OpenAlex.
- Targeting enhancing myelin regeneration reverses cognitive deficits in a mouse model of intellectual disability.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.American journal of human genetics · 2026Article
- Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches.European journal of human genetics : EJHG · 2025Article
- V-ATPase and Lysosomal Energy Sensing in Periodontitis and Medicine-Related Osteonecrosis of the Jaw.Biomolecules · 2025Review
- Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy.Epilepsia · 2025Article
- Review
- ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay.Journal of human genetics · 2023Article
- ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.Brain : a journal of neurology · 2023Article
- Conserved Molecular Players Involved in Human Nose Morphogenesis Underlie Evolution of the Exaggerated Snout Phenotype in Cichlids.Genome biology and evolution · 2023Article
- Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.Developmental medicine and child neurology · 2023Article
- Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.Human genetics · 2022Review
- Article
- The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour.Cellular and molecular life sciences : CMLS · 2021Article
- DOORS syndrome and a recurrent truncating ATP6V1B2 variant.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- PDK1 Regulates the Maintenance of Cell Body and the Development of Dendrites of Purkinje Cells by pS6 and PKCγ.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
- The epilepsy and intellectual disability-associated protein TBC1D24 regulates the maintenance of excitatory synapses and animal behaviors.PLoS genetics · 2020Article
- The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.Human molecular genetics · 2019Article
- The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.Human molecular genetics · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
25 authors at 14 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeContiguous gene deletions are known to cause several neurodevelopmental syndromes, many of which are caused by recurrent events on chromosome 16. However, chromosomal microarray studies (CMA) still yield copy-number variants (CNVs) of unknown clinical significance. We sought to characterize eight individuals with overlapping 205-kb to 504-kb 16p13.3 microdeletions that are distinct from previously published deletion syndromes.
methodsClinical information on the patients and bioinformatic scores for the deleted genes were analyzed.
resultsAll individuals in our cohort displayed developmental delay, intellectual disability, and various forms of seizures. Six individuals were microcephalic and two had strabismus. The deletion was absent in all 13 parents who were available for testing. The area of overlap encompasses seven genes including TBC1D24, ATP6V0C, and PDPK1 (also known as PDK1). Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures). Sanger sequencing of the nondeleted TBC1D24 allele did not yield any additional pathogenic variants.
conclusionsWe propose that 16p13.3 microdeletions resulting in simultaneous haploinsufficiencies of TBC1D24, ATP6V0C, and PDPK1 cause a novel rare contiguous gene deletion syndrome of microcephaly, developmental delay, intellectual disability, and epilepsy.
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