ABSTRACT

Developmental and Epileptic Encephalopathies (DEEs) are a group of early-onset syndromic disorders characterized by varying degree of intellectual disability, autism spectrum, seizures, and developmental delay. Herein, we have clinically and genetically dissected three siblings from Turkey with DEE born to first cousin unaffected parents. We identified a homozygous pathogenic variant in ELP2 (ENST00000358232.11:c.1385G>A; p.(Arg462Gln)). Our results, together with in depth literature review, underlie the importance of codon encoding the arginine at position 462 as a hotspot for ELP2 related neurological phenotypes.

摘要

发育性和癫痫性脑病 (DEE) 是一组以不同程度的智力障碍、自闭症谱系、癫痫发作和发育迟缓为特征的早发性综合征。在此，我们对来自土耳其的三个兄弟姐妹进行了临床和遗传解剖，这些兄弟姐妹的第一代堂兄未受影响的父母生下了 DEE。我们在ELP2 (ENST00000358232.11:c.1385G>A; p.(Arg462Gln))中发现了一个纯合致病性变异。我们的结果，连同深入的文献回顾，强调了编码 462 位精氨酸的密码子作为ELP2相关神经表型热点的重要性。