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 in | Genes Vol. 15; no. 8; p. 1033 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
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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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Keywords | KDM5 intellectual disabilities histone demethylation polygenetic interactions genetic syndromes neurodevelopmental disorders epigenetics |
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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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Title | A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants |
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