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

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.

SUBMITTER: Wijnen IGM 

PROVIDER: S-EPMC7253440 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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

Wijnen Iris G M IGM   Veenstra-Knol Hermine E HE   Vansenne Fleur F   Gerkes Erica H EH   de Koning Tom T   Vos Yvonne J YJ   Tijssen Marina A J MAJ   Sival Deborah D   Darin Niklas N   Vanhoutte Els K EK   Oosterloo Mayke M   Pennings Maartje M   van de Warrenburg Bart P BP   Kamsteeg Erik-Jan EJ  

European journal of human genetics : EJHG 20200310 6

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 disabi  ...[more]

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