A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

• Published in: Genes Vol. 15; no. 8; p. 1033
• Main Authors: Borroto, Maria Carla, Michaud, Coralie, Hudon, Chloé, Agrawal, Pankaj B, Agre, Katherine, Applegate, Carolyn D, Beggs, Alan H, Bjornsson, Hans T, Callewaert, Bert, Chen, Mei-Jan, Curry, Cynthia, Devinsky, Orrin, Dudding-Byth, Tracy, Fagan, Kelly, Finnila, Candice R, Gavrilova, Ralitza, Genetti, Casie A, Hiatt, Susan M, Hildebrandt, Friedhelm, Wojcik, Monica H, Kleefstra, Tjitske, Kolvenbach, Caroline M, Korf, Bruce R, Kruszka, Paul, Li, Hong, Litwin, Jessica, Marcadier, Julien, Platzer, Konrad, Blackburn, Patrick R, Reijnders, Margot R F, Reutter, Heiko, Schanze, Ina, Shieh, Joseph T, Stevens, Cathy A, Valivullah, Zaheer, van den Boogaard, Marie-José, Klee, Eric W, Campeau, Philippe M
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 06.08.2024; MDPI
• Subjects: Adolescent; Adult; Autism; Behavior; Child; Child, Preschool; Diagnosis; Epigenetics; Female; Females; Gene mutations; Genes; Genetic aspects; Genetic Association Studies; Genetic disorders; Genetic engineering; Genotype; Genotype & phenotype; Genotypes; Handicapped accessibility; Hereditary diseases; Humans; Identification and classification; Infant; Intellectual development; Intellectual disabilities; Intellectual Disability - genetics; Intellectual Disability - pathology; Jumonji Domain-Containing Histone Demethylases - genetics; Male; Mental retardation; Mutation; Mutation, Missense; Neurodevelopmental disorders; Nuclear Proteins; Pathogenicity; Patients; Phenotype; Phenotypes; Phenotyping; Physiological aspects; Repressor Proteins; Retrospective Studies; Sleep disorders; Vertebrates; Canada; KDM5; intellectual disabilities; histone demethylation; polygenetic interactions; genetic syndromes; neurodevelopmental disorders; epigenetics

Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive as well, have been more difficult to implicate in a specific pheno...