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Quantitative MRI Biomarkers of Neurodegeneration in Multiple Sclerosis
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Platten, Michael. - : KTH, Medicinsk avbildning, 2022. : Karolinska Institutet, 2022. : Stockholm : KTH, 2022
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An Equivocal SCC Lesion—Antiepileptic-Induced CLOCC
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In: Brain Sciences; Volume 12; Issue 3; Pages: 384 (2022)
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Corpus callosum morphology across the lifespan in baboons (Papio anubis): A cross-sectional study of relative mid-sagittal surface area and thickness
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In: ISSN: 0168-0102 ; EISSN: 1872-8111 ; Neuroscience Research ; https://hal-amu.archives-ouvertes.fr/hal-03196956 ; Neuroscience Research, Elsevier, 2021, ⟨10.1016/j.neures.2021.03.002⟩ (2021)
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Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants
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In: Genes ; Volume 12 ; Issue 9 (2021)
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Understanding Novel Metaphors: A Milestone in the Developmental Trajectory of Children with Agenesis of the Corpus Callosum?
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In: Brain Sciences ; Volume 10 ; Issue 10 (2020)
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
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Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren; Wierzba, Jolanta; Strom, Tim M; Parenti, Ilaria; Kaiser, Frank J; Ehmke, Nadja; Schaaf, Christian P
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In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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Abstract:
PurposeHaploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. Further, USP7 was identified to critically incorporate into the MAGEL2-USP7-TRIM27 (MUST), such that pathogenic variants in USP7 lead to altered endosomal F-actin polymerization and dysregulated protein recycling.MethodsWe report 16 newly identified individuals with heterozygous USP7 variants, identified by genome or exome sequencing or by chromosome microarray analysis. Clinical features were evaluated by review of medical records. Additional clinical information was obtained on the seven previously reported individuals to fully elucidate the phenotypic expression associated with USP7 haploinsufficiency.ResultsThe clinical manifestations of these 23 individuals suggest a syndrome characterized by DD/ID, hypotonia, eye anomalies,feeding difficulties, GERD, behavioral anomalies, and ASD, and more specific phenotypes of speech delays including a nonverbal phenotype and abnormal brain magnetic resonance image findings including white matter changes based on neuroradiologic examination.ConclusionThe consistency of clinical features among all individuals presented regardless of de novo USP7 variant type supports haploinsufficiency as a mechanism for pathogenesis and refines the clinical impact faced by affected individuals and caregivers.
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Keyword:
2.1 Biological and endogenous factors; Adolescent; Autism; Autism Spectrum Disorder; Behavioral and Social Science; Brain Disorders; Child; Chromosome Deletion; Clinical Research; Clinical Sciences; Congenital Structural Anomalies; corpus callosum thinning; DNA-Binding Proteins; Genetics; Genetics & Heredity; Genome; Haploinsufficiency; Human; Humans; Infant; Intellectual and Developmental Disabilities (IDD); Intellectual Disability; Language Development Disorders; Mental Health; neurodevelopment; Neurodevelopmental Disorders; Neurosciences; Newborn; Nuclear Proteins; Pediatric; Phenotype; Preschool; Problem Behavior; Proteins; speech delay; USP7; white matter paucity; Whole Exome Sequencing
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URL: https://escholarship.org/uc/item/0h47s4s0
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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
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In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal.umontpellier.fr/hal-02556784 ; American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (4), pp.854-868. ⟨10.1016/j.ajhg.2019.09.005⟩ (2019)
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Νευρογλωσσική εκτίμηση: μελέτη περίπτωσης σε ασθενή με σύνδρομο Aicardi ...
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Breastfeeding Duration Is Associated with Regional, but Not Global, Differences in White Matter Tracts
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In: Brain Sciences ; Volume 10 ; Issue 1 (2019)
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A transcallosal fibre system between homotopic inferior frontal regions supports complex linguistic processing
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In: European journal of neuroscience. - 50, 10 (2019) , 3544-3556, ISSN: 1460-9568 (2019)
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| 11 |
Neuropsychological Correlates of Cortical Miswiring: A Case Series in Corpus Callosum Dysgenesis
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Knight, Jacquelyn. - : The University of Queensland, School of Psychology, University of Queensland, 2019
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| 12 |
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
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In: ISSN: 0022-3476 ; Journal of Pediatrics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560200 ; Journal of Pediatrics, Elsevier, 2017, 185, pp.160 - 166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩ ; http://www.sciencedirect.com/science/article/pii/S0022347617302214 (2017)
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Bilingualism influences structural indices of interhemispheric organization
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In: Felton, A; Vazquez, D; Ramos-Nunez, AI; Greene, MR; Macbeth, A; Hernandez, AE; et al.(2017). Bilingualism influences structural indices of interhemispheric organization. JOURNAL OF NEUROLINGUISTICS, 42, 1 - 11. doi:10.1016/j.jneuroling.2016.10.004. UC Riverside: Retrieved from: http://www.escholarship.org/uc/item/1fw6w8pk (2017)
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| 14 |
Bilingualism Influences Structural Indices of Interhemispheric Organization.
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| 15 |
On the role of the corpus callosum in interhemispheric functional connectivity in humans.
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In: Proceedings of the National Academy of Sciences of the United States of America, vol 114, iss 50 (2017)
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Assessment of microstructural signal compartments across the corpus callosum using multi-echo gradient recalled echo at 7 T
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Effects of HIV and childhood trauma on brain morphometry and neurocognitive function.
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In: Journal of neurovirology, vol 22, iss 2 (2016)
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Predictors of longitudinal outcome and recovery of pragmatic language and its relation to externalizing behaviour after pediatric traumatic brain injury
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MIR137HG risk variant rs1625579 genotype is related to corpus callosum volume in schizophrenia
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A familial 7q36.3 duplication associated with agenesis of the corpus callosum
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