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

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...

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Published inGenes 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
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LanguageEnglish
Published Switzerland MDPI AG 06.08.2024
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Abstract 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 phenotype, since some of them have been found in unaffected controls or relatives. Here, we describe individuals with likely pathogenic variants in , including eight individuals with dominant missense variants. This study is a retrospective case series of 21 individuals with variants in . We performed deep phenotyping and collected the clinical information and molecular data of these individuals' family members. We compared the phenotypes according to variant type and to those previously described in the literature. The most common features were developmental delay, impaired intellectual development, behavioral problems, autistic behaviors, sleep disorders, facial dysmorphism, and overgrowth. DD, ASD behaviors, and sleep disorders were more common in individuals with dominant disruptive variants, while individuals with dominant missense variants presented more frequently with renal and skin anomalies. This study extends our understanding of the -related neurodevelopmental disorder and suggests the pathogenicity of certain dominant missense variants.
AbstractList 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 with likely pathogenic variants in KDM5B , including eight individuals with dominant missense variants. This study is a retrospective case series of 21 individuals with variants in KDM5B . We performed deep phenotyping and collected the clinical information and molecular data of these individuals’ family members. We compared the phenotypes according to variant type and to those previously described in the literature. The most common features were developmental delay, impaired intellectual development, behavioral problems, autistic behaviors, sleep disorders, facial dysmorphism, and overgrowth. DD, ASD behaviors, and sleep disorders were more common in individuals with dominant disruptive KDM5B variants, while individuals with dominant missense variants presented more frequently with renal and skin anomalies. This study extends our understanding of the KDM5B -related neurodevelopmental disorder and suggests the pathogenicity of certain dominant KDM5B missense variants.
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 with likely pathogenic variants in KDM5B , including eight individuals with dominant missense variants. This study is a retrospective case series of 21 individuals with variants in KDM5B . We performed deep phenotyping and collected the clinical information and molecular data of these individuals’ family members. We compared the phenotypes according to variant type and to those previously described in the literature. The most common features were developmental delay, impaired intellectual development, behavioral problems, autistic behaviors, sleep disorders, facial dysmorphism, and overgrowth. DD, ASD behaviors, and sleep disorders were more common in individuals with dominant disruptive KDM5B variants, while individuals with dominant missense variants presented more frequently with renal and skin anomalies. This study extends our understanding of the KDM5B -related neurodevelopmental disorder and suggests the pathogenicity of certain dominant KDM5B missense variants.
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 with likely pathogenic variants in KDM5B, including eight individuals with dominant missense variants. This study is a retrospective case series of 21 individuals with variants in KDM5B. We performed deep phenotyping and collected the clinical information and molecular data of these individuals' family members. We compared the phenotypes according to variant type and to those previously described in the literature. The most common features were developmental delay, impaired intellectual development, behavioral problems, autistic behaviors, sleep disorders, facial dysmorphism, and overgrowth. DD, ASD behaviors, and sleep disorders were more common in individuals with dominant disruptive KDM5B variants, while individuals with dominant missense variants presented more frequently with renal and skin anomalies. This study extends our understanding of the KDM5B-related neurodevelopmental disorder and suggests the pathogenicity of certain dominant KDM5B missense variants.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 with likely pathogenic variants in KDM5B, including eight individuals with dominant missense variants. This study is a retrospective case series of 21 individuals with variants in KDM5B. We performed deep phenotyping and collected the clinical information and molecular data of these individuals' family members. We compared the phenotypes according to variant type and to those previously described in the literature. The most common features were developmental delay, impaired intellectual development, behavioral problems, autistic behaviors, sleep disorders, facial dysmorphism, and overgrowth. DD, ASD behaviors, and sleep disorders were more common in individuals with dominant disruptive KDM5B variants, while individuals with dominant missense variants presented more frequently with renal and skin anomalies. This study extends our understanding of the KDM5B-related neurodevelopmental disorder and suggests the pathogenicity of certain dominant KDM5B missense variants.
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 phenotype, since some of them have been found in unaffected controls or relatives. Here, we describe individuals with likely pathogenic variants in , including eight individuals with dominant missense variants. This study is a retrospective case series of 21 individuals with variants in . We performed deep phenotyping and collected the clinical information and molecular data of these individuals' family members. We compared the phenotypes according to variant type and to those previously described in the literature. The most common features were developmental delay, impaired intellectual development, behavioral problems, autistic behaviors, sleep disorders, facial dysmorphism, and overgrowth. DD, ASD behaviors, and sleep disorders were more common in individuals with dominant disruptive variants, while individuals with dominant missense variants presented more frequently with renal and skin anomalies. This study extends our understanding of the -related neurodevelopmental disorder and suggests the pathogenicity of certain dominant missense variants.
Audience Academic
Author Michaud, Coralie
Borroto, Maria Carla
Gavrilova, Ralitza
Korf, Bruce R
Klee, Eric W
Hildebrandt, Friedhelm
Stevens, Cathy A
Devinsky, Orrin
Finnila, Candice R
Agrawal, Pankaj B
Agre, Katherine
Kruszka, Paul
Litwin, Jessica
Kolvenbach, Caroline M
Genetti, Casie A
Beggs, Alan H
Dudding-Byth, Tracy
Marcadier, Julien
Bjornsson, Hans T
Wojcik, Monica H
Shieh, Joseph T
Callewaert, Bert
Hudon, Chloé
Kleefstra, Tjitske
Reutter, Heiko
Blackburn, Patrick R
Reijnders, Margot R F
Schanze, Ina
Fagan, Kelly
Chen, Mei-Jan
Curry, Cynthia
Platzer, Konrad
Li, Hong
van den Boogaard, Marie-José
Applegate, Carolyn D
Campeau, Philippe M
Hiatt, Susan M
Valivullah, Zaheer
AuthorAffiliation 12 Hunter Genetics, Newcastle, NSW 2298, Australia
5 The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA; beggs@enders.tch.harvard.edu (A.H.B.)
19 GeneDx LLC, Gaithersburg, MD 20877, USA
8 Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium
21 Department of Neurology, University of California, San Francisco Benioff Children’s Hospital, San Francisco, CA 94158, USA
11 Departments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY 10016, USA
18 Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany
26 Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany
25 Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands
7 Department of Genetics and Molecular Medicine, Landspitali Univ
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/39202393$$D View this record in MEDLINE/PubMed
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Issue 8
Keywords KDM5
intellectual disabilities
histone demethylation
polygenetic interactions
genetic syndromes
neurodevelopmental disorders
epigenetics
Language English
License https://creativecommons.org/licenses/by/4.0
Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
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These authors contributed equally to this work.
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Snippet Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in have been identified as causative for autosomal recessive intellectual...
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have been identified as causative for autosomal recessive intellectual...
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have been identified as causative for autosomal recessive intellectual...
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StartPage 1033
SubjectTerms 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
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Title A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
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