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De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

Journal article
Authors I. G. M. Wijnen
H. E. Veenstra-Knol
F. Vansenne
E. H. Gerkes
T. de Koning
Y. J. Vos
M. A. J. Tijssen
D. Sival
Niklas Darin
E. K. Vanhoutte
M. Oosterloo
M. Pennings
B. P. van de Warrenburg
E. J. Kamsteeg
Published in European Journal of Human Genetics
Volume 28
Pages 763-769
ISSN 1018-4813
Publication year 2020
Published at Institute of Clinical Sciences, Department of Pediatrics
Pages 763-769
Language en
Keywords transcription, paraplegias, mutations, Biochemistry & Molecular Biology, Genetics & Heredity
Subject categories Genetics


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.

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