IRF2BPL Is Associated with Neurological Phenotypes
Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals who carry da...
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| Published in | American journal of human genetics Vol. 103; no. 2; pp. 245 - 260 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
02.08.2018
Elsevier |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals who carry damaging heterozygous variants in IRF2BPL and are affected with neurological symptoms. Five individuals who carry IRF2BPL nonsense variants resulting in a premature stop codon display severe neurodevelopmental regression, hypotonia, progressive ataxia, seizures, and a lack of coordination. Two additional individuals, both with missense variants, display global developmental delay and seizures and a relatively milder phenotype than those with nonsense alleles. The IRF2BPL bioinformatics signature based on population genomics is consistent with a gene that is intolerant to variation. We show that the fruit-fly IRF2BPL ortholog, called pits (protein interacting with Ttk69 and Sin3A), is broadly detected, including in the nervous system. Complete loss of pits is lethal early in development, whereas partial knockdown with RNA interference in neurons leads to neurodegeneration, revealing a requirement for this gene in proper neuronal function and maintenance. The identified IRF2BPL nonsense variants behave as severe loss-of-function alleles in this model organism, and ectopic expression of the missense variants leads to a range of phenotypes. Taken together, our results show that IRF2BPL and pits are required in the nervous system in humans and flies, and their loss leads to a range of neurological phenotypes in both species. |
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| AbstractList | Interferon regulatory factor 2 binding protein-like (
IRF2BPL
) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals who carry damaging heterozygous variants in
IRF2BPL
and are affected with neurological symptoms
.
Five individuals who carry
IRF2BPL
nonsense variants resulting in a premature stop codon display severe neurodevelopmental regression, hypotonia, progressive ataxia, seizures, and a lack of coordination. Two additional individuals, both with missense variants, display global developmental delay and seizures and a relatively milder phenotype than those with nonsense alleles. The
IRF2BPL
bioinformatics signature based on population genomics is consistent with a gene that is intolerant to variation. We show that the fruit-fly
IRF2BPL
ortholog, called
pits
(protein interacting with Ttk69 and Sin3A), is broadly detected, including in the nervous system. Complete loss of
pits
is lethal early in development, whereas partial knockdown with RNA interference in neurons leads to neurodegeneration, revealing a requirement for this gene in proper neuronal function and maintenance. The identified
IRF2BPL
nonsense variants behave as severe loss-of-function alleles in this model organism, and ectopic expression of the missense variants leads to a range of phenotypes. Taken together, our results show that
IRF2BPL
and
pits
are required in the nervous system in humans and flies, and their loss leads to a range of neurological phenotypes in both species. Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals who carry damaging heterozygous variants in IRF2BPL and are affected with neurological symptoms. Five individuals who carry IRF2BPL nonsense variants resulting in a premature stop codon display severe neurodevelopmental regression, hypotonia, progressive ataxia, seizures, and a lack of coordination. Two additional individuals, both with missense variants, display global developmental delay and seizures and a relatively milder phenotype than those with nonsense alleles. The IRF2BPL bioinformatics signature based on population genomics is consistent with a gene that is intolerant to variation. We show that the fruit-fly IRF2BPL ortholog, called pits (protein interacting with Ttk69 and Sin3A), is broadly detected, including in the nervous system. Complete loss of pits is lethal early in development, whereas partial knockdown with RNA interference in neurons leads to neurodegeneration, revealing a requirement for this gene in proper neuronal function and maintenance. The identified IRF2BPL nonsense variants behave as severe loss-of-function alleles in this model organism, and ectopic expression of the missense variants leads to a range of phenotypes. Taken together, our results show that IRF2BPL and pits are required in the nervous system in humans and flies, and their loss leads to a range of neurological phenotypes in both species. Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals who carry damaging heterozygous variants in IRF2BPL and are affected with neurological symptoms. Five individuals who carry IRF2BPL nonsense variants resulting in a premature stop codon display severe neurodevelopmental regression, hypotonia, progressive ataxia, seizures, and a lack of coordination. Two additional individuals, both with missense variants, display global developmental delay and seizures and a relatively milder phenotype than those with nonsense alleles. The IRF2BPL bioinformatics signature based on population genomics is consistent with a gene that is intolerant to variation. We show that the fruit-fly IRF2BPL ortholog, called pits (protein interacting with Ttk69 and Sin3A), is broadly detected, including in the nervous system. Complete loss of pits is lethal early in development, whereas partial knockdown with RNA interference in neurons leads to neurodegeneration, revealing a requirement for this gene in proper neuronal function and maintenance. The identified IRF2BPL nonsense variants behave as severe loss-of-function alleles in this model organism, and ectopic expression of the missense variants leads to a range of phenotypes. Taken together, our results show that IRF2BPL and pits are required in the nervous system in humans and flies, and their loss leads to a range of neurological phenotypes in both species.Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals who carry damaging heterozygous variants in IRF2BPL and are affected with neurological symptoms. Five individuals who carry IRF2BPL nonsense variants resulting in a premature stop codon display severe neurodevelopmental regression, hypotonia, progressive ataxia, seizures, and a lack of coordination. Two additional individuals, both with missense variants, display global developmental delay and seizures and a relatively milder phenotype than those with nonsense alleles. The IRF2BPL bioinformatics signature based on population genomics is consistent with a gene that is intolerant to variation. We show that the fruit-fly IRF2BPL ortholog, called pits (protein interacting with Ttk69 and Sin3A), is broadly detected, including in the nervous system. Complete loss of pits is lethal early in development, whereas partial knockdown with RNA interference in neurons leads to neurodegeneration, revealing a requirement for this gene in proper neuronal function and maintenance. The identified IRF2BPL nonsense variants behave as severe loss-of-function alleles in this model organism, and ectopic expression of the missense variants leads to a range of phenotypes. Taken together, our results show that IRF2BPL and pits are required in the nervous system in humans and flies, and their loss leads to a range of neurological phenotypes in both species. |
| Author | Smith, Edward C. Behnam, Babak Dillon, Ani Brush, Matthew Koeberl, Dwight D. Coakley, Terra R. Lewis, Richard A. Ward, Patricia A. Briere, Lauren C. Pena, Loren D.M. Handley, Lori H. Vogel, Tiphanie P. Alejandro, Mercedes E. Esteves, Cecilia Mirzaa, Ghayda Yamamoto, Shinya Gould, Sarah E. Dorset, Daniel C. Majcherska, Marta M. Zheng, Allison Hemelsoet, Dimitri Scott, Daryl A. Salamon, Noriko Ferreira, Carlos Vera, Moin U. Cogan, Joy D. Dhar, Shweta U. Draper, David D. Loscalzo, Joseph Barseghyan, Hayk Lee, Brendan H. Krier, Joel B. Murphy, Jennifer L. Silverman, Edwin K. Balasubramanyam, Ashok Jasien, Joan Donnell-Fink, Laurel A. Jiang, Yong-hui Azamian, Mahshid S. Bostwick, Bret L. Cooper, Cynthia M. Xia, Fan D’Souza, Precilla Herzog, Matthew Krieg, Elizabeth L. Kohane, Isaac S. Graham, John M. Spillmann, Rebecca C. Martínez-Agosto, Julián A. Potocki, Lorraine Sinsheimer, Janet S. May, Thomas Sweetser, David A. Brown, Donna M. Shashi, Vandana Jacob, Howard J. Coucke, Paul Nelson, Stan F. Tifft, Cynthia J. Valivullah, Zaheer M. Worthey, Elizabe |
| AuthorAffiliation | 9 Department of Radiology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA 13 Department of Psychiatry and Behavioral Sciences, Duke University School of Medicine, Durham, NC 27710, USA 23 Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA 3 Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA 14 Department of Ophthalmology, Duke University School of Medicine, Durham, NC 27710, USA 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA 7 Department of Child and Adolescent Psychiatry, Resnick Neuropsychiatric Hospital, University of California, Los Angeles, Los Angeles, CA 90095, USA 4 Division of Child & Adolescent Neurology, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA 16 Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA 22 Department of N |
| AuthorAffiliation_xml | – name: 14 Department of Ophthalmology, Duke University School of Medicine, Durham, NC 27710, USA – name: 19 Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA – name: 5 Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA – name: 7 Department of Child and Adolescent Psychiatry, Resnick Neuropsychiatric Hospital, University of California, Los Angeles, Los Angeles, CA 90095, USA – name: 10 Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, University of Pittsburgh, Pittsburgh, PA 15224, USA – name: 12 Division of Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA – name: 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – name: 16 Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA – name: 22 Department of Neurology, Ghent University Hospital, 9000 Ghent, Belgium – name: 11 Department of Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium – name: 17 Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA – name: 18 Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX 77030, USA – name: 6 Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA – name: 4 Division of Child & Adolescent Neurology, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA – name: 13 Department of Psychiatry and Behavioral Sciences, Duke University School of Medicine, Durham, NC 27710, USA – name: 15 Department of Orthopedic Surgery, Duke University School of Medicine, Durham, NC 27710, USA – name: 8 Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA – name: 9 Department of Radiology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA – name: 20 Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA 98105, USA – name: 3 Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA – name: 21 Department of Pediatrics, University of Washington, Seattle, WA 98105, USA – name: 2 Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA – name: 23 Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30057031$$D View this record in MEDLINE/PubMed |
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| Copyright | 2018 American Society of Human Genetics Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. 2018 American Society of Human Genetics. 2018 American Society of Human Genetics |
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| Keywords | CG11138 ataxia Drosophila neurodegeneration seizures C3HC4 RING finger developmental regression pits EAP1 hypotonia |
| Language | English |
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| Snippet | Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological... Interferon regulatory factor 2 binding protein-like ( IRF2BPL ) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological... |
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| SubjectTerms | ataxia C3HC4 RING finger CG11138 developmental regression Drosophila EAP1 hypotonia neurodegeneration pits seizures |
| Title | IRF2BPL Is Associated with Neurological Phenotypes |
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