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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
DE. Layo-Carris, EE. Lubin, AK. Sangree, KJ. Clark, EL. Durham, EM. Gonzalez, S. Smith, R. Angireddy, XM. Wang, E. Weiss, A. Toutain, R. Mendoza-Londono, L. Dupuis, N. Damseh, D. Velasco, I. Valenzuela, M. Codina-Solà, C. Ziats, J. Have, K....
Language English Country England, Great Britain
Document type Journal Article
Grant support
T32 GM008638
NIGMS NIH HHS - United States
T32GM008638
U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS)
1F30HD112125
U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
5T32HG009495
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)
P50 HD109879
NICHD NIH HHS - United States
T32 HG009495
NHGRI NIH HHS - United States
P50HD109879
U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NLK
Free Medical Journals
from 2009
PubMed Central
from 2009 to 1 year ago
Europe PubMed Central
from 2009 to 1 year ago
ProQuest Central
from 2000-01-01 to 1 year ago
Open Access Digital Library
from 1998-01-01
Health & Medicine (ProQuest)
from 2000-01-01 to 1 year ago
- MeSH
- Child MeSH
- Adult MeSH
- Phenotype * MeSH
- Histones * genetics MeSH
- Humans MeSH
- Intellectual Disability genetics pathology MeSH
- Adolescent MeSH
- Neurodegenerative Diseases genetics pathology MeSH
- Neurodevelopmental Disorders genetics pathology MeSH
- Child, Preschool MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative syndrome caused by de novo heterozygous variants in either H3-3A or H3-3B [1-4]. Here, we analyze the data of the 58 previously published individuals along 38 unpublished, unrelated individuals. In this larger cohort of 96 people, we identify causative missense, synonymous, and stop-loss variants. We also expand upon the phenotypic characterization by elaborating on the neurodevelopmental component of BLBS. Notably, phenotypic heterogeneity was present even amongst individuals harboring the same variant. To explore the complex phenotypic variation in this expanded cohort, the relationships between syndromic phenotypes with three variables of interest were interrogated: sex, gene containing the causative variant, and variant location in the H3.3 protein. While specific genotype-phenotype correlations have not been conclusively delineated, the results presented here suggest that the location of the variants within the H3.3 protein and the affected gene (H3-3A or H3-3B) contribute more to the severity of distinct phenotypes than sex. Since these variables do not account for all BLBS phenotypic variability, these findings suggest that additional factors may play a role in modifying the phenotypes of affected individuals. Histones are poised at the interface of genetics and epigenetics, highlighting the potential role for gene-environment interactions and the importance of future research.
Applied and Translational Neurogenomics Group VIB Center for Molecular Neurology Antwerp Belgium
Boston Children's Hospital Boston MA USA
Center of Medical Genetics Antwerp University Hospital University of Antwerp Edegem Belgium
Charles University 1st Faculty of Medicine and General University Hospital Prague Czech Republic
Charles University 2nd Faculty of Medicine and University Hospital Motol Prague Czech Republic
Children's Nebraska University of Nebraska Medical Center Omaha NE USA
Department of Clinical Genetics Cook Children's Hospital Fort Worth TX USA
Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands
Department of Genetics University Medical Center Utrecht Netherlands
Department of Human Genetics Children's Hospital of Philadelphia Philadelphia PA USA
Department of Human Genetics Inselspital Bern University of Bern Bern Switzerland
Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA
Department of Paediatrics University of Melbourne Melbourne VIC Australia
Department of Pediatric Neurology University Hospital Antwerp Antwerp Belgium
Department of Pediatrics Baylor College of Medicine San Antonio TX USA
Department of Pediatrics Duke University Hospital Durham NC USA
Division of Genetics and Metabolism Massachusetts General Hospital for Children Boston MA USA
Division of Medical Genetics Duke University Hospital Durham NC USA
Division of Pediatric Neurology Duke University Hospital Durham NC USA
DMG Children's Rehabilitative Services Phoenix AZ USA
Genetics Department Mary Bridge Children's Hospital Multicare Health System Tacoma WA USA
Greenwood Genetic Center Greenwood SC USA
Harvard Medical School Boston MA USA
Institute of Human Genetics Heinrich Heine University Düsseldorf Medical Faculty Düsseldorf Germany
Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany
Laboratoire de Biologie Médicale Multi Sites SeqOIA Paris France
McMaster University Medical Centre Hamilton ON Canada
Medical genetics department Centre Hospitalier Le Mans France
Medical Genetics Department University Hedi Chaker Hospital of Sfax Sfax Tunisia
Medicine Genetics Group Vall Hebron Research Institute Barcelona Spain
Nemours Children's Health Wilmington DE USA
NEURO Research Centre of Excellence University of Antwerp Antwerp Belgium
Orlando Health Arnold Palmer Hospital For Children Orlando FL USA
Perelman School of Medicine University of Pennsylvania Philadelphia PA USA
Service de Génétique CHU de Tours Tours France
Service de Génétique médicale Centre Labellisé Anomalies du Développement Ouest Site Poitiers France
Service de Génétique Médicale CHU d'Angers Angers France
Shodair Children's Hospital Helena MT USA
Tasmanian Clinical Genetics Service Tasmanian Health Service Hobart TAS Australia
UCL Great Ormond Street Institute of Child Health London UK
UMR1253 iBrain Inserm University of Tours Tours France
University of Calgary Calgary AB Canada
University of Utah Salt Lake City UT USA
University of Western Ontario London ON Canada
Victorian Clinical Genetics Services Murdoch Children's Research Institute Parkville VIC Australia
References provided by Crossref.org
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