Through brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations.
Ninety-six percent of patients had abnormal MRI results. The most common features were anomalies of corpus callosum (79.6% of cases), hippocampal abnormalities (77.8%), enlargement of cerebral ventricles (68.5%), and white matter abnormalities (reduction of thickness 40.7%, localized signal alterations 22.2%). Other consistent findings were large basal ganglia, cortical, and cerebellar malformations. Most features were underrepresented in the literature. We also found ZEB2 variations leading to synthesis of a defective protein to be favorable for psychomotor development and some epilepsy features but also associated with corpus callosum agenesis.
This study delineated the spectrum of brain anomalies in MWS and provided new insights into the role of ZEB2 in neurodevelopment.Genet Med advance online publication 10 November 2016.
通过脑磁共振成像(MRI)分析,我们描绘了54例MWS患者的神经影像学表型,证实了ZEB2缺陷,将其与对已发表病例的彻底审查中确定的特征进行比较,并评估基因型-表型相关性。
96%的患者有异常的MRI结果。最常见的特征是call体异常(占病例的79.6%),海马异常(77.8%),脑室扩大(68.5%),和白质异常(厚度减少40.7%,局部信号改变22.2%)。其他一致的发现是大基底神经节,皮质,和小脑畸形.大多数特征在文献中代表性不足。我们还发现ZEB2变异导致合成缺陷蛋白有利于精神运动发育和某些癫痫特征,但也与call体发育不全有关。
这项研究描绘了MWS中大脑异常的频谱,并为ZEB2在神经发育中的作用提供了新的见解。GenetMed提前在线出版2016年11月10日。