De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-10-26

AUTHORS

Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga

ABSTRACT

BackgroundDe novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias.MethodsFollowing the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database.ResultsWe identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype–phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator.LimitationsThe significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time.ConclusionsOur results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate. More... »

PAGES

69

Journal

TITLE

Molecular Autism

ISSUE

1

VOLUME

12

Author Affiliations

  • Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland
  • Division of Autistic Spectrum Disorders, Department of Psychiatry, Lausanne University Hospital (CHUV), Lausanne, Switzerland
  • Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
  • Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA
  • Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal
  • Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
  • The Broad Institute of MIT and Harvard, Cambridge, MA, USA
  • Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
  • Department of Paediatrics and Child Health, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa
  • Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
  • Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
  • Unit of Paediatric Neurology and Pediatric Neurorehabiliation, Woman-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland
  • Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
  • Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
  • Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan
  • Neuroscience Institute, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13229-021-00473-3

    DOI

    http://dx.doi.org/10.1186/s13229-021-00473-3

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1142144908

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34702355


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