| Autor: |
Carminho‐Rodrigues, 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. |
| Zdroj: |
American Journal of Medical Genetics. Part A; Sep2020, Vol. 182 Issue 9, p2129-2132, 4p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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