Journal article
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
- Carminho-Rodrigues MT Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
- Steel D Departement of Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
- Sousa SB Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.
- Brandt G Neurologische Klinik, Klinik und Poliklinik des Universitätsklinikums Würzburg, Würzburg, Germany.
- Guipponi M Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
- Laurent S Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
- Fokstuen S Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
- Moren A Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
- Zacharia A Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
- Dirren E Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
- Oliveira R Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.
- Kurian MA Departement of Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
- Burkhard PR Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
- Bally JF Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
- 2020-07-07
Published in:
- American journal of medical genetics. Part A. - 2020
English
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.
- Language
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- English
- Open access status
- closed
- Identifiers
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- DOI 10.1002/ajmg.a.61731
- PMID 32627382
- Persistent URL
- https://sonar.ch/global/documents/252403
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