The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
Purpose Sifrim–Hitz–Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4 . In this study, we investigated the clinical spectrum of the disorder, genotype–phenotype correlations, and the effect of different missense variants on...
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| Published in | Genetics in medicine Vol. 22; no. 2; pp. 389 - 397 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.02.2020
Nature Publishing Group |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Purpose
Sifrim–Hitz–Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in
CHD4
. In this study, we investigated the clinical spectrum of the disorder, genotype–phenotype correlations, and the effect of different missense variants on CHD4 function.
Methods
We collected clinical and molecular data from 32 individuals with mostly de novo variants in
CHD4
, identified through next-generation sequencing. We performed adenosine triphosphate (ATP) hydrolysis and nucleosome remodeling assays on variants from five different CHD4 domains.
Results
The majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies, congenital heart defects, and dysmorphic features. Macrocephaly was a frequent but not universal finding. Additional common abnormalities included hypogonadism in males, skeletal and limb anomalies, hearing impairment, and ophthalmic abnormalities. The majority of variants were nontruncating and affected the SNF2-like region of the protein. We did not identify genotype–phenotype correlations based on the type or location of variants. Alterations in ATP hydrolysis and chromatin remodeling activities were observed in variants from different domains.
Conclusion
The CHD4-related syndrome is a multisystemic neurodevelopmental disorder. Missense substitutions in different protein domains alter CHD4 function in a variant-specific manner, but result in a similar phenotype in humans. |
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| AbstractList | PURPOSE: Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype correlations, and the effect of different missense variants on CHD4 function.METHODS: We collected clinical and molecular data from 32 individuals with mostly de novo variants in CHD4, identified through next-generation sequencing. We performed adenosine triphosphate (ATP) hydrolysis and nucleosome remodeling assays on variants from five different CHD4 domains.RESULTS: The majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies, congenital heart defects, and dysmorphic features. Macrocephaly was a frequent but not universal finding. Additional common abnormalities included hypogonadism in males, skeletal and limb anomalies, hearing impairment, and ophthalmic abnormalities. The majority of variants were nontruncating and affected the SNF2-like region of the protein. We did not identify genotype-phenotype correlations based on the type or location of variants. Alterations in ATP hydrolysis and chromatin remodeling activities were observed in variants from different domains.CONCLUSION: The CHD4-related syndrome is a multisystemic neurodevelopmental disorder. Missense substitutions in different protein domains alter CHD4 function in a variant-specific manner, but result in a similar phenotype in humans. Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants inCHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype correlations, and the effect of different missense variants on CHD4 function.PURPOSESifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants inCHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype correlations, and the effect of different missense variants on CHD4 function.We collected clinical and molecular data from 32 individuals with mostly de novo variants in CHD4, identified through next-generation sequencing. We performed adenosine triphosphate (ATP) hydrolysis and nucleosome remodeling assays on variants from five different CHD4 domains.METHODSWe collected clinical and molecular data from 32 individuals with mostly de novo variants in CHD4, identified through next-generation sequencing. We performed adenosine triphosphate (ATP) hydrolysis and nucleosome remodeling assays on variants from five different CHD4 domains.The majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies, congenital heart defects, and dysmorphic features. Macrocephaly was a frequent but not universal finding. Additional common abnormalities included hypogonadism in males, skeletal and limb anomalies, hearing impairment, and ophthalmic abnormalities. The majority of variants were nontruncating and affected the SNF2-like region of the protein. We did not identify genotype-phenotype correlations based on the type or location of variants. Alterations in ATP hydrolysis and chromatin remodeling activities were observed in variants from different domains.RESULTSThe majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies, congenital heart defects, and dysmorphic features. Macrocephaly was a frequent but not universal finding. Additional common abnormalities included hypogonadism in males, skeletal and limb anomalies, hearing impairment, and ophthalmic abnormalities. The majority of variants were nontruncating and affected the SNF2-like region of the protein. We did not identify genotype-phenotype correlations based on the type or location of variants. Alterations in ATP hydrolysis and chromatin remodeling activities were observed in variants from different domains.The CHD4-related syndrome is a multisystemic neurodevelopmental disorder. Missense substitutions in different protein domains alter CHD4 function in a variant-specific manner, but result in a similar phenotype in humans.CONCLUSIONThe CHD4-related syndrome is a multisystemic neurodevelopmental disorder. Missense substitutions in different protein domains alter CHD4 function in a variant-specific manner, but result in a similar phenotype in humans. Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants inCHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype correlations, and the effect of different missense variants on CHD4 function. We collected clinical and molecular data from 32 individuals with mostly de novo variants in CHD4, identified through next-generation sequencing. We performed adenosine triphosphate (ATP) hydrolysis and nucleosome remodeling assays on variants from five different CHD4 domains. The majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies, congenital heart defects, and dysmorphic features. Macrocephaly was a frequent but not universal finding. Additional common abnormalities included hypogonadism in males, skeletal and limb anomalies, hearing impairment, and ophthalmic abnormalities. The majority of variants were nontruncating and affected the SNF2-like region of the protein. We did not identify genotype-phenotype correlations based on the type or location of variants. Alterations in ATP hydrolysis and chromatin remodeling activities were observed in variants from different domains. The CHD4-related syndrome is a multisystemic neurodevelopmental disorder. Missense substitutions in different protein domains alter CHD4 function in a variant-specific manner, but result in a similar phenotype in humans. Purpose Sifrim–Hitz–Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4 . In this study, we investigated the clinical spectrum of the disorder, genotype–phenotype correlations, and the effect of different missense variants on CHD4 function. Methods We collected clinical and molecular data from 32 individuals with mostly de novo variants in CHD4 , identified through next-generation sequencing. We performed adenosine triphosphate (ATP) hydrolysis and nucleosome remodeling assays on variants from five different CHD4 domains. Results The majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies, congenital heart defects, and dysmorphic features. Macrocephaly was a frequent but not universal finding. Additional common abnormalities included hypogonadism in males, skeletal and limb anomalies, hearing impairment, and ophthalmic abnormalities. The majority of variants were nontruncating and affected the SNF2-like region of the protein. We did not identify genotype–phenotype correlations based on the type or location of variants. Alterations in ATP hydrolysis and chromatin remodeling activities were observed in variants from different domains. Conclusion The CHD4-related syndrome is a multisystemic neurodevelopmental disorder. Missense substitutions in different protein domains alter CHD4 function in a variant-specific manner, but result in a similar phenotype in humans. |
| Author | Smol, Thomas Colin, Estelle Dubbs, Holly A. Krock, Bryan Santani, Avni Nugent, Kimberly Clayton-Smith, Jill Rumple, Melissa Metcalfe, Kay van Haeringen, Arie Skraban, Cara M. Gambello, Michael Monteil, Danielle Turnpenny, Peter Whalen, Sandra Keren, Boris Weiss, Karin Schrier Vergano, Samantha A. Parker, Michael J. Ziegler, Alban Cohen, Lior Wright, Michael Muenke, Maximilian DeChene, Elizabeth Baris Feldman, Hagit Martinez, Ariel F. Petrovich, Robert M. Kurolap, Alina Irving, Melita Ghoumid, Jamal Quinonez, Shane C. Zackai, Elaine H. Gelb, Bruce D. Lachlan, Katherine Medne, Līvija Kurumizaka, Hitoshi Roberts, John D. Lazar, Hayley P. Roeder, Elizabeth R. Heide, Solveig Takaku, Motoki Kenney, Amy Paperna, Tamar Wade, Paul A. Jain, Mahim Terhal, Pauline Smeland, Marie F. Campeau, Philippe M. Hove, Hanne |
| AuthorAffiliation | 13. Division of Genomic Diagnostics, Children’s Hospital of Philadelphia 21. Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, United States 20. Department of Clinical Genetics, Leiden University Medical Center. Leiden, the Netherlands 14. Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA 23. Division of Neurology, Children’s Hospital of Philadelphia 22. Division of Human Genetics, Children’s Hospital of Philadelphia 12. Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Denmark 6. Department of medical genetics, University Hospital of North Norway, Tromsø, Norway 15. Department of Biochemistry and Genetics, University Hospital Angers, France 33. Wessex Clinical genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK 9. Department of Clinical Genetics, Guy's Hospital, London, |
| AuthorAffiliation_xml | – name: 2. Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA – name: 7. AP-HP, Département de Génétique, Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs" Hôpital de la Pitié Salpêtrière, Paris, France – name: 12. Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Denmark – name: 3. The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel – name: 22. Division of Human Genetics, Children’s Hospital of Philadelphia – name: 32. Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada H3T1C5 – name: 30. Waseda University, Tokyo, 169-8050, Japan – name: 14. Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA – name: 25. EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France – name: 10. Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters – name: 13. Division of Genomic Diagnostics, Children’s Hospital of Philadelphia – name: 26. Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK – name: 11. Department of Pediatrics, Eastern Virginia Medical School – name: 31. Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 – name: 16. Banner Child Neurology, Glendale, AZ 85306 USA – name: 27. Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust. Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK – name: 29. Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester. Manchester Centre For Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK – name: 4. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA – name: 23. Division of Neurology, Children’s Hospital of Philadelphia – name: 8. Department of Genetics, Utrecht University Medical Center, Utrecht, 3584 CX, the Netherlands – name: 5. Genetics Institute, Schneider Children’s Medical Center, Petah Tikva 49202, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel – name: 9. Department of Clinical Genetics, Guy's Hospital, London, SE1 9RT, UK – name: 1. The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel – name: 18. Department of Pediatrics, Naval Medical Center Portsmouth – name: 24. Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France – name: 28. University of Exeter Medical School. Clinical Genetics Royal Devon & Exeter Hospital, Exeter EX1 2ED, UK – name: 17. Department Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore MD USA – name: 21. Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, United States – name: 20. Department of Clinical Genetics, Leiden University Medical Center. Leiden, the Netherlands – name: 6. Department of medical genetics, University Hospital of North Norway, Tromsø, Norway – name: 15. Department of Biochemistry and Genetics, University Hospital Angers, France – name: 33. Wessex Clinical genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK – name: 19. Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX USA |
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organization: Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University |
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| Keywords | chromatin remodeling missense 12p13.31 ATPase intellectual disability Intellectual Disability |
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Sifrim–Hitz–Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in
CHD4
. In this... Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants inCHD4. In this study, we... PURPOSE: Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4. In this... |
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| SubjectTerms | Abnormalities, Multiple - genetics Adolescent Adult Biomedical and Life Sciences Biomedicine Child Child, Preschool Chromatin Assembly and Disassembly - genetics Developmental Disabilities - genetics Female Genetic Association Studies Genotype Hearing Loss - genetics Heart Defects, Congenital - genetics Human Genetics Humans Infant Infant, Newborn Intellectual Disability - genetics Laboratory Medicine Life Sciences Male Megalencephaly - genetics Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics Mi-2 Nucleosome Remodeling and Deacetylase Complex - metabolism Musculoskeletal Abnormalities - genetics Mutation, Missense - genetics Neurodevelopmental Disorders - genetics Phenotype Syndrome Transcription Factors - genetics |
| Title | The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis |
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