Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)

Article Article scientifique Rapport de cas Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome) eng 2020 author Carminho Amaro Rodrigues Maria Teresa 935600 author Steel Dora author Sousa Sergio B author Brandt Gregor author Guipponi Michel 118157 author Laurent Sacha 931717 author Fokstuen Siv 133715 author Moren Aurea 704836 author Zacharia André-Valery 507408 author Dirren Elisabeth 840921 author Oliveira Renata author Kurian Manju A author Burkhard Pierre 0000-0002-7459-5778 92389 author Bally Julien 507511 2129-2132 10.1002/ajmg.a.61731 32627382 1552-4825 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. Dewey 576.5 Dewey 616.8 135 Département de médecine génétique et développement 21D 61 Département des neurosciences cliniques 226 false 124 Groupe Pierre Burkhard (neurologie) 154 American Journal of Medical Genetics. A 182 9 d6da1157-1eaf-49b5-b147-5b3d200fab23 Article (Published version) Restricted ARTICLEPDF.pdf 583307 application/pdf restrictedAccess Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement Faculté de médecine / Section de médecine clinique / Département des neurosciences cliniques

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Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)	American Journal of Medical Genetics. A			2020	346	1

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