Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 182, Issue 9, Pages 2129-2132Publisher
WILEY
DOI: 10.1002/ajmg.a.61731
Keywords
action-tremor; ataxia; autosomal dominant; dystonia; YY1 gene
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Funding
- National Institute for Health Research
- British Medical Association
- Baasch Medicus Foundation
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YY1mutations 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 inYY1[NM: 003403.4 (YY1): c.907 T > C; p.(Cys303Arg)], classified as pathogenic according to the ACMG guidelines.
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