UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

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

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. Green open access

[thumbnail of YY1_draft_AJMG_final_version.docx] Text
YY1_draft_AJMG_final_version.docx - Accepted Version

Download (47kB)

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
Downloads since deposit
14Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item