Department of Opthalmology, Yonsei University College of Medicine, Seoul 03722, Korea.
Department of Ophthalmology, Institute of Vision Research, Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Korea.
Genes (Basel). 2021 Apr 15;12(4):575. doi: 10.3390/genes12040575.
Variants in the gene, one of the tubulin-encoding genes, are known to cause congenital fibrosis of the extraocular muscles type 3 and/or malformations of cortical development. Herein, we report a case of a 6-month-old infant with c.967A>G:p.(M323V) variant in the gene, who had only infantile nystagmus without other ophthalmological abnormalities. Subsequent brain magnetic resonance imaging (MRI) revealed cortical dysplasia. Neurological examinations did not reveal gross or fine motor delay, which are inconsistent with the clinical characteristics of patients with the M323V syndrome reported so far. A protein modeling showed that the M323V mutation in the gene interferes with αβ heterodimer formation with the gene. This report emphasizes the importance of considering and tubulinopathy in infantile nystagmus. A brain MRI should also be considered for these patients, although in the absence of other neurologic signs or symptoms.
该基因中的变体，即微管蛋白编码基因之一，已知会导致 3 型先天性眼外肌纤维化和/或皮质发育畸形。在此，我们报告了一例 6 月龄婴儿携带 基因中的 c.967A>G:p.(M323V)变体，该婴儿仅表现为婴儿性眼球震颤，无其他眼科异常。随后的脑磁共振成像（MRI）显示皮质发育不良。神经学检查未发现粗大或精细运动延迟，这与迄今为止报道的 M323V 综合征患者的临床特征不一致。蛋白建模表明， 基因中的 M323V 突变会干扰与 基因形成的αβ异二聚体。本报告强调了在婴儿性眼球震颤中考虑 和 微管蛋白病的重要性。对于这些患者，即使没有其他神经体征或症状，也应考虑进行脑部 MRI。
