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Scientific article
Case report
English

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

Published inAmerican Journal of Medical Genetics. A, vol. 182, no. 9, p. 2129-2132
Publication date2020
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.

Citation (ISO format)
CARMINHO AMARO RODRIGUES, Maria Teresa et al. Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome). In: American Journal of Medical Genetics. A, 2020, vol. 182, n° 9, p. 2129–2132. doi: 10.1002/ajmg.a.61731
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ISSN of the journal1552-4825
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Creation05/10/2021 12:06:00 PM
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