ArticleHuman genetics2018
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Article in Human genetics, 2018. 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, 37 citations in OpenAlex.
- FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.American journal of human genetics · 2025Article
- Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency.HGG advances · 2025Article
- FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals.Journal of human genetics · 2024Article
- Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.Journal of autism and developmental disorders · 2024Review
- Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.American journal of human genetics · 2022Article
- De novo missense variants in FBXO11 alter its protein expression and subcellular localization.Human molecular genetics · 2022Article
- Transcript-Specific Loss-of-Function Variants inNeurology. Genetics · 2022Article
- Monitoring Glucose Concentrations in Children with Epilepsy on a Ketogenic Diet.Healthcare (Basel, Switzerland) · 2022Article
- A de novo paradigm for male infertility.Nature communications · 2022Article
- Frequent mutations of FBXO11 highlight BCL6 as a therapeutic target in Burkitt lymphoma.Blood advances · 2021Article
- Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma.Familial cancer · 2021Article
- Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy.Annals of clinical and translational neurology · 2021Article
- Article
- Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.American journal of human genetics · 2020Article
- Breakpoint Mapping of Symptomatic Balanced Translocations Links theJournal of clinical medicine · 2020Article
- Article
- A Genocentric Approach to Discovery of Mendelian Disorders.American journal of human genetics · 2019Article
- De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.American journal of human genetics · 2019Article
- Essential genetic findings in neurodevelopmental disorders.Human genomics · 2019Review
- KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.Annals of clinical and translational neurology · 2019Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
Abstract
Intellectual disability (ID) has an estimated prevalence of 1.5-2%. In most affected individuals, its genetic basis remains unclear. Whole exome sequencing (WES) studies have identified a multitude of novel causative gene defects and have shown that a large proportion of sporadic ID cases results from de novo mutations. Here, we present two unrelated individuals with similar clinical features and deleterious de novo variants in FBXO11 detected by WES. Individual 1, a 14-year-old boy, has mild ID as well as mild microcephaly, corrected cleft lip and alveolus, hyperkinetic disorder, mild brain atrophy and minor facial dysmorphism. WES detected a heterozygous de novo 1 bp insertion in the splice donor site of exon 3. Individual 2, a 3-year-old boy, showed ID and pre- and postnatal growth retardation, postnatal mild microcephaly, hyperkinetic and restless behaviour, as well as mild dysmorphism. WES detected a heterozygous de novo frameshift mutation. While ten individuals with ID and de novo variants in FBXO11 have been reported as part of larger studies, only one of the reports has some additional clinical data. Interestingly, the latter individual carries the identical mutation as our individual 2 and also displays ID, intrauterine growth retardation, microcephaly, behavioural anomalies, and dysmorphisms. Thus, we confirm deleterious de novo mutations in FBXO11 as a cause of ID and start the delineation of the associated clinical picture which may also comprise postnatal microcephaly or borderline small head size and behavioural anomalies.
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