ReviewGenetics in medicine : official journal of the American College of Medical Genetics2020
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
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Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32citing papers in PubMed
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Who cites it
32 citing papers in PubMed, 62 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
- Clinical and Molecular Delineation ofHuman mutation · 2026Article
- Exploring KAT6 as a therapeutic target in breast cancer: epigenetic approaches for precision medicine.NPJ breast cancer · 2025Review
- Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome.Journal of autism and developmental disorders · 2025Article
- Lysine Acetyltransferase 6 in Health and Disease.MedComm · 2025Review
- The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.Clinical genetics · 2025Review
- Article
- InvestigatingFrontiers in endocrinology · 2025Article
- Müllerian papilloma: two case reports of malignant transformation and literature review.Frontiers in oncology · 2025Article
- Genitopatellar Syndrome With a Novel Variant in the KAT6B Gene: Supporting Spectrum Delineation.Cureus · 2024Article
- MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.American journal of human genetics · 2024Article
- Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.The Journal of clinical investigation · 2024Article
- The omics era: a nexus of untapped potential for Mendelian chromatinopathies.Human genetics · 2024Review
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
- Acetyltransferase in cardiovascular disease and aging.The journal of cardiovascular aging · 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
- Circ-MALAT1 accelerates cell proliferation and epithelial mesenchymal transformation of colorectal cancer through regulating miR-506-3p/KAT6B axis.The Kaohsiung journal of medical sciences · 2023Article
- The histone acetyltransferase KAT6A is recruited to unmethylated CpG islands via a DNA binding winged helix domain.Nucleic acids research · 2023Article
Corrections and comments
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Authors and funding
60 authors at 20 institutions in 9 countries.
Li Xin Zhang *Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC, Canada.
Gabrielle Lemire *Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.
Claudia Gonzaga-JaureguiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Sirinart MolidpereeSainte-Justine Hospital Research Center, University of Montreal, Montreal, QC, Canada.
Carolina Galaz-MontoyaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
David S LiuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Alain VerloesDepartment of Genetics and INSERM UMR1141, APHP-Nord Université de Paris, Robert DEBRE Hospital, Paris and ERN-ITHACA, Paris, France.
Amelle G ShillingtonDepartment of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Kosuke IzumiDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Alyssa L RitterDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Beth KeenaDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Elaine ZackaiDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Dong LiCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Elizabeth BhojDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jennifer M TarpinianRoberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Emma BedoukianRoberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Mary K KukolichCook Children's Health Care System, Fort Worth, TX, USA.
A Micheil InnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
Grace U EdiaeChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Sarah L SawyerDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Karippoth Mohandas NairDepartment of Pediatrics, Government Medical College, Kozhikode, Kerala, India.
Para Chottil SoumyaDepartment of Pediatrics, Government Medical College, Kozhikode, Kerala, India.
Kinattinkara R SubbaramanDepartment of Pediatrics, Government Medical College, Kozhikode, Kerala, India.
Frank J ProbstDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Jennifer A BassettiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Reid V SuttonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Chester BrownUniversity of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA.
Philip M BooneDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Ingrid A HolmDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Marco TartagliaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Giovanni Battista FerreroDepartment of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.
Marcello NicetaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Maria Lisa DenticiGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Francesca Clementina RadioGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Boris KerenGenetic department, AP-HP, Sorbonne Université, Paris, France.
Constance F WellsService de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France.
Christine CoubesService de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France.
Annie LaquerrièreDepartment of Pathology, Centre for Genomic and Personalized Medicine, UNIROUEN Normandie University, Inserm U1245, Normandy, Rouen, France.
Jacqueline AzizaDépartement anatomie et cytologie pathologiques, CHU Toulouse, Toulouse, France.
Charlotte DubucsDépartement anatomie et cytologie pathologiques, CHU Toulouse, Toulouse, France.
Sheela NampoothiriDepartment of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India.
David MowatCentre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.
Millan S PatelBC Children's Hospital Research Institute and Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Ana BrachoGenetic Research Institute, University of Zulia, Maracaibo, Venezuela.
Francisco Cammarata-ScalisiMedical Genetics, University of Los Andes, Mérida, Venezuela.
Alper GezdiriciDepartment of Medical Genetics, Istanbul Health Science University, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
Alberto Fernandez-JaenDepartment of Pediatric Neurology, Hospital Quirónsalud School of Medicine, Universidad Europea, Madrid, Spain.
Natalie HauserInova Health system, Falls Church, VA, USA.
Yuri A ZarateDepartment of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Katherine A BosankoDepartment of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Klaus DieterichMedical Genetics, CHU Grenoble Alpes, Université Grenoble Alpes, Inserm, U1216, GIN, Grenoble, France.
John C CareyDivision of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, USA.
Jessica X ChongDepartment of Pediatrics, University of Washington, Seattle, WA, USA.
Deborah A NickersonBrotman-Baty Institute for Precision Medicine, Seattle, WA, USA.
Michael J BamshadDepartment of Pediatrics, University of Washington, Seattle, WA, USA.
Brendan H LeeDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Xiang-Jiao YangGoodman Cancer Center, Department of Medicine, McGill University, Montreal, QC, Canada.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Philippe M CampeauDivision of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada. p.campeau@umontreal.ca.ORCID http://orcid.org/0000-0001-9713-7107
Baylor College of Medicine · USChildren's Hospital of Philadelphia · USBambino Gesù Children's Hospital · ITCentre Hospitalier Universitaire Sainte-Justine · CAGovernment Medical College · INInserm · FRUniversity of Washington · USBoston Children's Hospital · USChildren's Hospital of Eastern Ontario · CAGénétique Médicale & Génomique Fonctionelle · FRUniversity of Arkansas for Medical Sciences · USAmrita Institute of Medical Sciences and Research Centre · INCincinnati Children's Hospital Medical Center · USCook Children's Health Care System · USHospital Universitario Quirónsalud Madrid · ESInova Health System · USMcGill University · CASağlık Bilimleri Üniversitesi · TRSydney Children's Hospital · AUUniversidad del Zulia · VE
Funding
Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MTRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MNonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MCIHRNCATS NIH HHS UL1 TR002538NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493NHGRI NIH HHS UM1 HG006542NIGMS NIH HHS T32 GM007748NINDS NIH HHS R01 NS058529NINDS NIH HHS R35 NS105078
Abstract
purposeGenitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called KAT6B disorders, whose variable expressivity is increasingly being recognized.
methodsWe herein present the phenotypes of 32 previously unreported individuals with a molecularly confirmed diagnosis of a KAT6B disorder, report 24 new pathogenic KAT6B variants, and review phenotypic information available on all published individuals with this condition. We also suggest a classification of clinical subtypes within the KAT6B disorder spectrum.
resultsWe demonstrate that cerebral anomalies, optic nerve hypoplasia, neurobehavioral difficulties, and distal limb anomalies other than long thumbs and great toes, such as polydactyly, are more frequently observed than initially reported. Intestinal malrotation and its serious consequences can be present in affected individuals. Additionally, we identified four children with Pierre Robin sequence, four individuals who had increased nuchal translucency/cystic hygroma prenatally, and two fetuses with severe renal anomalies leading to renal failure. We also report an individual in which a pathogenic variant was inherited from a mildly affected parent.
conclusionOur work provides a comprehensive review and expansion of the genotypic and phenotypic spectrum of KAT6B disorders that will assist clinicians in the assessment, counseling, and management of affected individuals.
Indexed as
BlepharophimosisIntellectual DisabilityExonsHistone AcetyltransferasesHumansMutationHistone AcetyltransferasesKAT6B protein, humangenitopatellar syndromeKAT6BKAT6B disordersSay–Barber–Biesecker–Young–Simpson syndromeSBBYSS
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