IRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età pediatrica, Bologna, Italy.
Department of Medical Sciences Pediatric Section, University of Ferrara, Italy.
Eur J Med Genet. 2021 Dec;64(12):104361. doi: 10.1016/j.ejmg.2021.104361. Epub 2021 Oct 12.
The elongator complex is a highly conserved macromolecular assembly composed by 6 individual proteins (Elp 1-6) and it is essential for many cellular functions such as transcription elongation, histone acetylation and tRNA modification. ELP2 is the second major subunit and with Elp1 and Elp3 it shapes the catalytic core of this essential complex. ELP2 gene pathogenic variants have been reported to be associated with several neurodevelopmental disorders, such as intellectual disability, severe motor development delay with truncal hypotonia, spastic diplegia, choreoathetosis, short stature and neuropsychiatric problems. Here we report a case with heterozygous variants of the ELP2 gene associated with unpublished electro-clinical and neuroimaging features, such as abnormal eye movements, focal epilepsy, cortico-cerebellar atrophy and nodular cortical heterotopia on brain MRI. A possible phenotype-genotype correlation and the electro-clinical and neuroimaging phenotype expansion of ELP2 mutations are here discussed, together with considerations on involved cortico-cerebellar networks and a detailed review of the literature.
延伸因子复合物是一种高度保守的大分子组装体，由 6 个独立的蛋白质（Elp1-6）组成，对于许多细胞功能至关重要，如转录延伸、组蛋白乙酰化和 tRNA 修饰。ELP2 是第二大亚基，与 Elp1 和 Elp3 一起构成了这个必需复合物的催化核心。ELP2 基因的致病性变异已被报道与多种神经发育障碍有关，如智力残疾、严重的运动发育迟缓伴躯干性张力减退、痉挛性双瘫、舞蹈手足徐动症、身材矮小和神经精神问题。在这里，我们报告了一例 ELP2 基因的杂合变异病例，该病例伴有未发表的电临床和神经影像学特征，如眼球运动异常、局灶性癫痫、皮质-小脑萎缩和脑 MRI 上的结节性皮质异位。讨论了可能的表型-基因型相关性以及 ELP2 突变的电临床和神经影像学表型扩展，同时考虑了涉及的皮质-小脑网络以及文献的详细综述。
