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Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome)
Author(s) -
CarminhoRodrigues Maria Teresa,
Steel Dora,
Sousa Sergio B.,
Brandt Gregor,
Guipponi Michel,
Laurent Sacha,
Fokstuen Siv,
Moren Aurea,
Zacharia André,
Dirren Elisabeth,
Oliveira Renata,
Kurian Manju A.,
Burkhard Pierre R.,
Bally Julien F.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61731
Subject(s) - dystonia , exome sequencing , medicine , ataxia , cerebellar ataxia , intellectual disability , mutation , psychology , genetics , neuroscience , biology , psychiatry , gene
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.