Article
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Genes - 6 Aug 2024
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
Abstract excerpt
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B 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 phenotype, since some of them have been found in unaffected controls or relatives. Here, we describe individuals...
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