Complex movement disorder in a patient with heterozygous <scp>YY1</scp> mutation (Gabriele‐de Vries syndrome)
Maria Teresa Carminho‐Rodrigues, Dora Steel, Sérgio B. Sousa, Gregor A. Brandt, Michel Guipponi, Sacha Laurent, Siv Fokstuen, Aurea Moren, André Zacharia, Elisabeth Dirren, Renata Melo e Silva de Oliveira, Manju A. Kurian, Pierre R. Burkhard, Julien F. Bally
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.