A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation
A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation
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DOI：
10.1016/j.clineuro.2022.107283
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发表时间：
2022-05-20
影响因子：
1.9
通讯作者：
Anlas, Ozlem
中科院分区：
文献类型：
--
作者：
Sarigecili, Esra;Bulut, Fatma Derya;Anlas, Ozlem
L-丝氨酸是保证神经元分化和发育的重要氨基酸。SLC 1A 4基因编码蛋白质，其将氨基酸如丝氨酸、丙氨酸、苏氨酸和谷氨酸转运到神经元中。SLC 1A 4基因中间神经元L-丝氨酸转运受损的致病性变体和严重的全球发育迟缓发生，其特征在于小头畸形和难治性癫痫发作。在这篇文章中，我们想描述的人口统计学，临床，脑电图（EEG）和磁共振成像（MRI）的特点，一个新的致病性变异的SLC 1A 4基因（p.Gly374Arg）的第6外显子全外显子组测序检测，这是非常罕见的（有20例患者在文献中报道）。强调如果患者有小头畸形、全面发育迟缓、难治性癫痫发作，并且基础代谢检查无异常，MRI上可见胼胝体变薄和髓鞘形成延迟，则应注意SLC 1A 4基因变异。
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.