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

Iris G. M. Wijnen, Hermine E. Veenstra-Knol, Fleur Vansenne, Erica H. Gerkes, Tom de Koning, Yvonne J. Vos, Marina A. J. Tijssen, Deborah Sival, Niklas Darin, Els K. Vanhoutte, Mayke Oosterloo, Maartje Pennings, Bart P. van de Warrenburg, Erik-Jan Kamsteeg*

*Corresponding author for this work

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Abstract

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.

Original languageEnglish
Pages (from-to)763-769
Number of pages7
JournalEJHG
Volume28
Issue number6
Early online date2020
DOIs
Publication statusPublished - 10-Mar-2020

Keywords

  • TRANSCRIPTION
  • PARAPLEGIAS
  • MUTATIONS

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