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  • Title: Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
    Author: Carminho-Rodrigues MT, Steel D, Sousa SB, Brandt G, Guipponi M, Laurent S, Fokstuen S, Moren A, Zacharia A, Dirren E, Oliveira R, Kurian MA, Burkhard PR, Bally JF.
    Journal: Am J Med Genet A; 2020 Sep; 182(9):2129-2132. PubMed ID: 32627382.
    Abstract:
    YY1 mutations cause Gabriele-de Vries syndrome, a recently described condition involving cognitive impairment, facial dysmorphism and intrauterine growth restriction. Movement disorders were reported in 5/10 cases of the original series, but no detailed description was provided. Here we present a 21-year-old woman with a mild intellectual deficit, facial dysmorphism and a complex movement disorder including an action tremor, cerebellar ataxia, dystonia, and partial ocular apraxia as the presenting and most striking feature. Whole-exome sequencing revealed a novel heterozygous de novo mutation in YY1 [NM: 003403.4 (YY1): c.907 T > C; p.(Cys303Arg)], classified as pathogenic according to the ACMG guidelines.
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