ArticleEuropean journal of human genetics : EJHG2015
Further delineation of the KAT6B molecular and phenotypic spectrum.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 64 citations in OpenAlex.
- Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study.NPJ genomic medicine · 2026Article
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- A Novel De Novo KAT6B Mutation Causes Hypospadias in a Chinese Fetus at 29 Weeks Gestation.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Genitopatellar Syndrome With a Novel Variant in the KAT6B Gene: Supporting Spectrum Delineation.Cureus · 2024Article
- Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.The Journal of clinical investigation · 2024Article
- De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.Journal of medical case reports · 2024Article
- Clinical heterogeneity of polish patients with KAT6B-related disorder.Molecular genetics & genomic medicine · 2023Article
- Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.Molecular genetics & genomic medicine · 2023Article
- Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Knowns and unknowns about congenital hypothyroidism: 2022 update.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Review
- BRPF1-KAT6A/KAT6B Complex: Molecular Structure, Biological Function and Human Disease.Cancers · 2022Review
- Delineation of a Phenotype Caused by aMolecular syndromology · 2022Article
- Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.Orphanet journal of rare diseases · 2021Article
- Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.Molecular genetics & genomic medicine · 2021Article
- Integrated in silico MS-based phosphoproteomics and network enrichment analysis of RASopathy proteins.Orphanet journal of rare diseases · 2021Article
- Deficiency of Intellectual Disability-Related GeneFrontiers in cell and developmental biology · 2021Article
- Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- Article
- Impaired Regulation of Histone Methylation and Acetylation Underlies Specific Neurodevelopmental Disorders.Frontiers in genetics · 2020Review
- A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period.Case reports in genetics · 2020Article
Corrections and comments
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Authors and funding
60 authors at 20 institutions in 16 countries.
Funding
Abstract
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.
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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.