Trisomy X syndrome with dystonia and a pathogenic SATB1 variant.
Neurol Sci. 2021 May 24. doi: 10.1007/s10072-021-05320-0. Epub ahead of print. PMID: 34031799.
|Authors/Editors:||Necpál J, Zech M, Winkelmann J, Jech R.|
The widespread application of modern sequencing technologies has revealed an ever-growing number of novel gene-disease associations and genotype-phenotype correlations. Sometimes, two different genetic abnormalities may occur in a single person and considerably confound the phenotype. Herein, we report on a patient with a known gonosomal numeric aberration, who was also found to carry a pathogenic point mutation in a new candidate dystonia-associated gene, SATB1.