University of Health Sciences Adana City Training and Research Hospital, Department of Pediatric Neurology, Adana, Turkey.
Çukurova University Faculty of Medicine, Department of Pediatric Metabolism, Adana, Turkey.
Clin Neurol Neurosurg. 2022 Jul;218:107283. doi: 10.1016/j.clineuro.2022.107283. Epub 2022 May 10.
L-serine is an important amino acid that ensures neuronal differentiation and development. The SLC1A4 gene encodes proteins that transport amino acids such as serine, alanine, threonine and glutamate into neurons. Pathogenic variants in SLC1A4 gene interneuron transport of L-serine impaired and a severe global developmental delay occurs, characterized by microcephaly and refractory seizures. In this article, we would like to describe the demographic, clinical, electroencephalography (EEG) and magnetic resonance imaging (MRI) features of a patient with a novel pathogenic variant in the 6th exon of the SLC1A4 gene (p.Gly374Arg) detected by whole-exome sequencing, which is extremely rare (there have been twenty patients reported in the literature). It is emphasized that SLC1A4 gene variants should be kept in mind if the patients have microcephaly, global developmental delay, refractory seizures, and there are no abnormalities in basal metabolic investigations, and the thin corpus callosum and myelination delay is seen on the MRI.
L-丝氨酸是一种重要的氨基酸，可确保神经元的分化和发育。SLC1A4 基因编码的蛋白质可将氨基酸（如丝氨酸、丙氨酸、苏氨酸和谷氨酸）转运到神经元中。SLC1A4 基因中的致病性变体可损害神经递质 L-丝氨酸的转运，从而导致严重的全球发育迟缓，其特征为小头畸形和难治性癫痫发作。在本文中，我们将描述通过全外显子组测序检测到 SLC1A4 基因第 6 外显子（p.Gly374Arg）中存在新型致病性变体（极其罕见，文献中已有二十例患者报告）的患者的人口统计学、临床、脑电图（EEG）和磁共振成像（MRI）特征。如果患者有小头畸形、全球发育迟缓、难治性癫痫发作，且基础代谢检查无异常，MRI 可见薄胼胝体和髓鞘化延迟，应考虑 SLC1A4 基因变异。
