一例由……双等位基因变异导致的皮质畸形新病例
A New Case With Cortical Malformation Caused by Biallelic Variants in .
作者信息
Abe Kazuo, Ando Kumiko, Kato Mitsuhiro, Saitsu Hirotomo, Nakashima Mitsuko, Aoki Shintaro, Kimura Takashi
机构信息
Department of Neurology (Kazuo Abe, T.K.), Hyogo College of Medicine Hospital; Center of Neurology (Kazuo Abe), Gratia Hospital; Department of Diagnostic Radiology (Kumiko Ando), Kobe City Medical Center General Hospital; Department of Pediatrics (M.K.), Showa University School of Medicine; and Department of Biochemistry (H.S., M.N., S.A.), Hamamatsu University School of Medicine.
出版信息
Neurol Genet. 2022 May 9;8(3):e680. doi: 10.1212/NXG.0000000000000680. eCollection 2022 Jun.
OBJECTIVE
In this study, we report the case of a 24-year-old man with intellectual disability and childhood-onset seizures. This patient had newly identified biallelic variants in the laminin subunit gamma 3 () gene with unreported cortical malformation.
METHODS
Exome sequencing.
RESULTS
Genetic analyses revealed new biallelic variants in the gene. An MRI examination of the brain revealed cortical malformations predominantly in the temporal lobes and mildly in the occipital, frontal, and parietal lobes. In addition, our patient also exhibited mild midline malformation in the ventral pons, which is unique to variants.
DISCUSSION
Patients with variants have been reported to exhibit cortical malformation predominantly in the occipital lobes, but this patient exhibited cortical malformation predominantly in the temporal lobes and mildly in the occipital, frontal, and parietal lobes. In addition, this patient also exhibited mild midline malformation in the ventral pons. These unique findings cast new light on the role of in brain development.
目的
在本研究中，我们报告了一名患有智力残疾和儿童期发作癫痫的24岁男性病例。该患者在层粘连蛋白γ3（）基因中发现了新的双等位基因变异，伴有未报告的皮质畸形。
方法
外显子组测序。
结果
基因分析揭示了该基因中的新双等位基因变异。脑部MRI检查显示皮质畸形主要位于颞叶，枕叶、额叶和顶叶轻度受累。此外，我们的患者在腹侧脑桥还表现出轻度中线畸形，这是该变异所特有的。
讨论
据报道，携带该变异的患者主要在枕叶表现出皮质畸形，但该患者主要在颞叶表现出皮质畸形，枕叶、额叶和顶叶轻度受累。此外，该患者在腹侧脑桥也表现出轻度中线畸形。这些独特的发现为该基因在脑发育中的作用提供了新的线索。
Zotero 插件