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*

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

2 Citaten (Scopus)

Samenvatting

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.

Originele taal-2English
Pagina's (van-tot)763-769
Aantal pagina's7
TijdschriftEJHG
Volume28
Nummer van het tijdschrift6
Vroegere onlinedatum2020
DOI's
StatusPublished - 10-mrt-2020

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