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Sheng Xie, Zhixin Zhang, Qiuling Zhao, Jiaying Zhang, Suyu Zhong, Yanchao Bi, Yong He, Hui Pan, Gaolang Gong, The Effects of X Chromosome Loss on Neuroanatomical and Cognitive Phenotypes During Adolescence: a Multi-modal Structural MRI and Diffusion Tensor Imaging Study, Cerebral Cortex, Volume 25, Issue 9, September 2015, Pages 2842–2853, https://doi.org/10.1093/cercor/bhu079
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Abstract
The absence of all or part of one X chromosome in female humans causes Turner's syndrome (TS), providing a unique “knockout model” to investigate the role of the X chromosome in neuroanatomy and cognition. Previous studies have demonstrated TS-associated brain differences; however, it remains largely unknown 1) how the brain structures are affected by the type of X chromosome loss and 2) how X chromosome loss influences the brain–cognition relationship. Here, we addressed these by investigating gray matter morphology and white matter connectivity using a multimodal MRI dataset from 34 adolescent TS patients (13 mosaic and 21 nonmosaic) and 21 controls. Intriguingly, the 2 TS groups exhibited significant differences in surface area in the right angular gyrus and in white matter integrity of the left tapetum of corpus callosum; these data support a link between these brain phenotypes and the type of X chromosome loss in TS. We further showed that the X chromosome modulates specific brain–cognition relationships: thickness and surface area in multiple cortical regions are positively correlated with working-memory performance in controls but negatively in TS. These findings provide novel insights into the X chromosome effect on neuroanatomical and cognitive phenotypes and highlight the role of genetic factors in brain–cognition relationships.
