ArticleFrontiers in pediatrics2017
Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction.
Article in Frontiers in pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 36 citations in OpenAlex.
- Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.The Journal of clinical investigation · 2018Trial
- mTOR signaling networks: mechanistic insights and translational frontiers in disease therapeutics.Signal transduction and targeted therapy · 2025Review
- The transcriptomic signature of DEPDC5 KO induced mTOR hyperactivation in human neurons and its response to rapamycin treatment.Epilepsia · 2025Article
- De Novo Variants in Siblings: A Rare Occurrence of Two Unrelated Pathogenic Mutations.Movement disorders clinical practice · 2025Article
- Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.Genetics research · 2025Article
- Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review.Case reports in genetics · 2025Article
- GATOR1 Mutations Impair PI3 Kinase-Dependent Growth Factor Signaling Regulation of mTORC1.International journal of molecular sciences · 2024Article
- Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.Epilepsia open · 2024Review
- Bioenergetic signatures of neurodevelopmental regression.Frontiers in physiology · 2024Article
- Metabolomic Signatures of Autism Spectrum Disorder.Journal of personalized medicine · 2022Article
- Time dependent changes in the bioenergetics of peripheral blood mononuclear cells: processing time, collection tubes and cryopreservation effects.American journal of translational research · 2022Article
- Review
- Mitochondrial morphology is associated with respiratory chain uncoupling in autism spectrum disorder.Translational psychiatry · 2021Article
- SEA and GATOR 10 Years Later.Cells · 2021Review
- Prenatal air pollution influences neurodevelopment and behavior in autism spectrum disorder by modulating mitochondrial physiology.Molecular psychiatry · 2021Article
- Potential Role of L-Carnitine in Autism Spectrum Disorder.Journal of clinical medicine · 2021Review
- Epilepsy in the mTORopathies: opportunities for precision medicine.Brain communications · 2021Review
- Phenotypic and Imaging Spectrum Associated With WDR45.Pediatric neurology · 2020Article
- Developmental regression and mitochondrial function in children with autism.Annals of clinical and translational neurology · 2020Article
- Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The prevalence of autism spectrum disorder (ASD) is high, yet the etiology of this disorder is still uncertain. Advancements in genetic analysis have provided the ability to identify potential genetic changes that may contribute to ASD. Interestingly, several genetic syndromes have been linked to metabolic dysfunction, suggesting an avenue for treatment. In this case study, we report siblings with ASD who had similar initial phenotypic presentations. Whole exome sequencing (WES) revealed a novel c.795delT mutation in the WDR45 gene affecting the girl, which was consistent with her eventual progression to a Rett-like syndrome phenotype including seizures along with a stereotypical cyclic breathing pattern. Interestingly, WES identified that the brother harbored a novel heterozygous Y1546H variant in the DEP domain-containing protein 5 (DEPDC5) gene, consistent with his presentation. Both siblings underwent a metabolic workup that demonstrated different patterns of mitochondrial dysfunction. The girl demonstrated statistically significant elevations in mitochondrial activity of complex I + III in both muscle and fibroblasts and increased respiration in peripheral blood mononuclear cells (PBMCs) on Seahorse Extracellular Flux analysis. The boy demonstrates a statistically significant decrease in complex IV activity in buccal epithelium and decreased respiration in PBMCs. These cases highlight the differences in genetic abnormalities even in siblings with ASD phenotypes as well as highlights the individual role of novel mutations in the WDR45 and DEPDC5 genes. These cases demonstrate the importance of advanced genetic testing combined with metabolic evaluations in the workup of children with ASD.
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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.