Carminho-Rodrigues, MT;
Steel, D;
Sousa, SB;
Brandt, G;
Guipponi, M;
Laurent, S;
Fokstuen, S;
... Bally, JF; + view all
(2020)
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome).
American Journal of Medical Genetics Part A
, 182
(9)
pp. 2129-2132.
10.1002/ajmg.a.61731.
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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.
| Type: | Article |
|---|---|
| Title: | Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome) |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/ajmg.a.61731 |
| Publisher version: | http://dx.doi.org/10.1002/ajmg.a.61731 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | action-tremor, ataxia, autosomal dominant, dystonia, YY1 gene, YIN-YANG 1, YY1, MODULATION, DISABILITY, EXPRESSION |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10111337 |
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