Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
Am J Med Genet A
; 182(9): 2129-2132, 2020 09.
Article
em En
| MEDLINE
| ID: mdl-32627382
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fator de Transcrição YY1
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Transtornos do Neurodesenvolvimento
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Transtornos dos Movimentos
Limite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Newborn
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article