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De novo variants in...
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
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Wijnen, I. G. M. (author)
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Veenstra-Knol, H. E. (author)
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Vansenne, F. (author)
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Gerkes, E. H. (author)
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de Koning, T. (author)
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Vos, Y. J. (author)
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Tijssen, M. A. J. (author)
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Sival, D. (author)
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- Darin, Niklas, 1964 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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Vanhoutte, E. K. (author)
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Oosterloo, M. (author)
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Pennings, M. (author)
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van de Warrenburg, B. P. (author)
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Kamsteeg, E. J. (author)
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(creator_code:org_t)
- 2020-03-10
- 2020
- English.
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In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 28, s. 763-769
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https://www.nature.c...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Keyword
- transcription
- paraplegias
- mutations
- Biochemistry & Molecular Biology
- Genetics & Heredity
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Wijnen, I. G. M.
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Veenstra-Knol, H ...
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Vansenne, F.
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Gerkes, E. H.
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de Koning, T.
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Vos, Y. J.
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show more...
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Tijssen, M. A. J ...
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Sival, D.
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Darin, Niklas, 1 ...
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Vanhoutte, E. K.
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Oosterloo, M.
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Pennings, M.
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van de Warrenbur ...
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Kamsteeg, E. J.
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show less...
- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
- Articles in the publication
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European Journal ...
- By the university
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University of Gothenburg