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Article

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

European journal of human genetics : EJHG - 1 Jun 2020

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

Abstract excerpt

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...

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Identifiers

PMID: 32157189
DOI: 10.1038/s41431-020-0600-5
PMCID: PMC7253440

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