Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)
Détails
ID Serval
serval:BIB_7DB90929D2CF
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)
Périodique
Am J Med Genet A
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
09/2020
Volume
182
Numéro
9
Pages
2129-2132
Langue
anglais
Notes
Carminho-Rodrigues, Maria Teresa
Steel, Dora
Sousa, Sergio B
Brandt, Gregor
Guipponi, Michel
Laurent, Sacha
Fokstuen, Siv
Moren, Aurea
Zacharia, Andre
Dirren, Elisabeth
Oliveira, Renata
Kurian, Manju A
Burkhard, Pierre R
Bally, Julien F
eng
RP-2016-07-019/DH_/Department of Health/United Kingdom
Case Reports
Research Support, Non-U.S. Gov't
Am J Med Genet A. 2020 Sep;182(9):2129-2132. doi: 10.1002/ajmg.a.61731. Epub 2020 Jul 6.
Steel, Dora
Sousa, Sergio B
Brandt, Gregor
Guipponi, Michel
Laurent, Sacha
Fokstuen, Siv
Moren, Aurea
Zacharia, Andre
Dirren, Elisabeth
Oliveira, Renata
Kurian, Manju A
Burkhard, Pierre R
Bally, Julien F
eng
RP-2016-07-019/DH_/Department of Health/United Kingdom
Case Reports
Research Support, Non-U.S. Gov't
Am J Med Genet A. 2020 Sep;182(9):2129-2132. doi: 10.1002/ajmg.a.61731. Epub 2020 Jul 6.
Résumé
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.
Mots-clé
*YY1 gene, *action-tremor, *ataxia, *autosomal dominant, *dystonia
Pubmed
Création de la notice
21/05/2021 10:09
Dernière modification de la notice
22/05/2021 6:34