De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
| Autor: | Bart P.C. van de Warrenburg, Mayke Oosterloo, Yvonne J. Vos, Erik-Jan Kamsteeg, Fleur Vansenne, Maartje Pennings, Els K. Vanhoutte, Deborah A Sival, Erica H. Gerkes, Niklas Darin, Hermine E. Veenstra-Knol, Tom J. de Koning, Marina A. J. Tijssen, Iris G.M. Wijnen |
|---|---|
| Přispěvatelé: | Movement Disorder (MD), MUMC+: DA KG Polikliniek (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9) |
| Rok vydání: | 2019 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Ataxia media_common.quotation_subject Nonsense Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] Article Frameshift mutation 03 medical and health sciences Young Adult Borderline intellectual functioning Intellectual Disability Intellectual disability Genetics medicine Missense mutation Humans Spasticity TRANSCRIPTION Child Genetics (clinical) media_common 0303 health sciences business.industry MUTATIONS 030305 genetics & heredity Calcium-Binding Proteins PARAPLEGIAS Syndrome Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] medicine.disease Phenotype Muscle Spasticity Child Preschool Mutation Spinocerebellar ataxia Trans-Activators Female medicine.symptom business |
| Zdroj: | Eur J Hum Genet European Journal of Human Genetics, 28, 763-769 EJHG, 28(6), 763-769. Nature Publishing Group European Journal of Human Genetics, 28, 6, pp. 763-769 European Journal of Human Genetics, 28(6), 763-769. Nature Publishing Group |
| ISSN: | 1476-5438 1018-4813 |
| Popis: | Contains fulltext : 220425.pdf (Publisher’s version ) (Closed access) Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability (OMIM#614756). However, ataxia, intellectual disability, and dysmorphic features were all incompletely penetrant, even within families. Here, we describe four patients with de novo nonsense, frameshift or missense CAMTA1 variants. All four patients predominantly manifested features of ataxia and/or spasticity. Borderline intellectual disability and dysmorphic features were both present in one patient only, and other neurological and behavioural symptoms were variably present. Neurodevelopmental delay was found to be mild. Our findings indicate that also nonsense, frameshift and missense variants in CAMTA1 can cause a spastic ataxia syndrome as the main phenotype. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink