TUBGCP2基因杂合突变1例并文献复习

One Case of Heterozygous Mutation in TUBGCP2 Gene and Literature Review

摘要: 目的：总结1例TUBGCP2基因突变患儿的临床及基因变异特点。方法：回顾性分析在青岛大学附属医院儿童神经内科明确诊断的1例TUBGCP2基因突变导致的以面瘫及肢体偏瘫起病，伴频繁癫痫发作为主要表现的患儿临床资料。结果：女性患儿，7月龄，以频繁癫痫发作(局灶性发作)、后出现面瘫及肢体偏瘫为主要表现；颅脑磁共振成像(MRI)示双侧大脑半球局部脑回增粗并内移向白质区域延伸，枕大池扩大。医学全外显子测序分析提示TUBGCP2基因新生杂合变异，变异位点为c.1598A > T (p.E553V)、c480G > C (p.M160I)，中国内地尚无TUBGCP2基因双等位杂合变异患儿报道。予抗癫痫药物治疗后未再出现抽搐发作，但患儿存在小头畸形，运动及认知发育与同龄儿大致相符。结论：癫痫发作、偏瘫的患儿，需考虑有该病的可能，应及时诊治。

Abstract: Objective: To summarize the clinical and genetic variation characteristics of a child with TUBGCP2 gene mutations. Methods: The clinical data of one child with facial paralysis and limb hemiplegia with frequent seizures as the main manifestations caused by TUBGCP2 gene mutations in the Department of Pediatric Neurology of the Affiliated Hospital of Qingdao University were retrospectively analyzed. Results: A 7-month-old female child had frequent seizures (focal seizures), followed by facial paralysis and limb hemiplegia. Magnetic resonance imaging (MRI) of the brain showed that the local gyrus of both cerebral hemispheres was thickened and moved inward to the white matter region, and the cisterna magnum was enlarged. Medical whole exome sequencing analysis showed that the TUBGCP2 gene was a nascent heterozygous variant, and the mutation sites were c.1598A > T (p.E553V) and c480G > C (p.M160I). No cases of children with biallelic compound heterozygous variants in the TUBGCP2 gene have been reported in mainland China. No further seizures occurred after antiepileptic drug therapy, but the child had microcephaly and motor and cognitive development was broadly consistent with that of children of the same age. Conclusions: Children with seizures and hemiplegia should consider the possibility of this disease and be diagnosed and treated in time.