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

Research output: Contribution to journalArticle

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.

Details

Authors
  • 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
External organisations
  • Radboud University Medical Center
  • University Medical Center Groningen
  • Beatrix Children's Hospital
  • Queen Silvia Children’s Hospital
  • Yukioka Hospital
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Neurology
  • Medical Genetics
Original languageEnglish
JournalEuropean Journal of Human Genetics
Publication statusE-pub ahead of print - 2020 Mar 10
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes