Article
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Clinical genetics - 1 Feb 2021
Jacobs Eva Z, Brown Kathleen, Byler Melissa C, D'haenens Erika, Dheedene Annelies, Henderson Lindsay B, Humberson Jennifer B, van Jaarsveld Richard H, Kanani Farah, Lebel Robert Roger, Millan Francisca, Oegema Renske, Oostra Ann, Parker Michael J, Rhodes Lindsay, Saenz Margarita, Seaver Laurie H, Si Yue, Vanlander Arnaud, Vergult Sarah, Callewaert Bert
Abstract excerpt
The CAMTA1-associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, with or without intellectual disability. Here, we describe 10 individuals with CAMTA1 variants: nine previously unreported (likely) pathogenic variants comprising one missense, four frameshift and four nonsense variants, and one missense variant of unknown...
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