ArticleEuropean journal of human genetics : EJHG2010
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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53 citing papers in PubMed, 161 citations in OpenAlex.
- Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.Human genetics · 2015Trial
- Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization.Biomedical reports · 2026Article
- Insights into ANKRD11-related epilepsy from 163 people.Epilepsia · 2026Article
- Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature.Human genome variation · 2026Article
- Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.Frontiers in pediatrics · 2026Article
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- Identification of plasma proteins associated with seizures in epilepsy: A consensus machine learning approach.PloS one · 2025Article
- KBG syndrome complicated with chylothorax in a newborn: a case report and literature review.Frontiers in pediatrics · 2025Article
- Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities.Prenatal diagnosis · 2024Article
- The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function.Nature communications · 2024Article
- De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.American journal of medical genetics. Part A · 2024Article
- Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.Epilepsia open · 2023Article
- Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.Journal of medical genetics · 2023Review
- KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.Molecular genetics & genomic medicine · 2023Review
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- Natural history of KBG syndrome in a large European cohort.Human molecular genetics · 2022Article
- Autism-Related Transcription Factors Underlying the Sex-Specific Effects of Prenatal Bisphenol A Exposure on Transcriptome-Interactome Profiles in the Offspring Prefrontal Cortex.International journal of molecular sciences · 2021Article
- Resolving heterogeneity in schizophrenia through a novel systems approach to brain structure: individualized structural covariance network analysis.Molecular psychiatry · 2021Article
- Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.Journal of clinical medicine · 2021Article
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12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The clinical use of array comparative genomic hybridization in the evaluation of patients with multiple congenital anomalies and/or mental retardation has recently led to the discovery of a number of novel microdeletion and microduplication syndromes. We present four male patients with overlapping molecularly defined de novo microdeletions of 16q24.3. The clinical features observed in these patients include facial dysmorphisms comprising prominent forehead, large ears, smooth philtrum, pointed chin and wide mouth, variable cognitive impairment, autism spectrum disorder, structural anomalies of the brain, seizures and neonatal thrombocytopenia. Although deletions vary in size, the common region of overlap is only 90 kb and comprises two known genes, Ankyrin Repeat Domain 11 (ANKRD11) (MIM 611192) and Zinc Finger 778 (ZNF778), and is located approximately 10 kb distally to Cadherin 15 (CDH15) (MIM 114019). This region is not found as a copy number variation in controls. We propose that these patients represent a novel and distinctive microdeletion syndrome, characterized by autism spectrum disorder, variable cognitive impairment, facial dysmorphisms and brain abnormalities. We suggest that haploinsufficiency of ANKRD11 and/or ZNF778 contribute to this phenotype and speculate that further investigation of non-deletion patients who have features suggestive of this 16q24.3 microdeletion syndrome might uncover other mutations in one or both of these genes.
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