SLC35A2基因突变致先天性糖基化障碍1例

doi:10.6040/j.issn.1671-7554.0.2020.1529

摘要/Abstract

摘要： 目的对1例反复抽搐伴发育落后患儿的临床特点及致病基因进行分析。方法回顾性分析患儿的临床资料及基因检测结果,并复习相关文献。结果患儿,男,生后1个月左右出现反复抽搐,伴发育落后等症状;体格检查下腹部、右腿部及背部可见色素脱失斑;视频脑电图提示周期性爆发抑制伴高度失律背景;颅脑磁共振提示双侧侧脑室旁脑白质异常信号。采用高通量测序法,发现患儿SLC35A2基因(NM_001042498)第2号外显子存在1个杂合错义突变c.262G>C(P.A88P);家系分析显示父母亲该位点无变异,为自发突变,诊断为SLC35A2-CDG。给予托吡酯、氯硝西泮、左乙拉西坦、拉莫三嗪等抗癫痫药及促肾上腺皮质激素治疗,抽搐发作较前减少。结论 SLC35A2-CDG是一种由X连锁显性遗传引起的糖蛋白合成障碍的罕见的遗传代谢病,目前尚无有效治疗方法,基因检测有助于明确诊断。

关键词: 先天性糖基化障碍, SLC35A2基因, 基因突变, 癫痫, 发育迟缓

Abstract: Objective To explore the clinical manifestations and genetic basis of a patient with recurrent epileptic seizures and global developmental delay. Methods The clinical data and genetic test results of the patient were analyzed retrospectively and related literature was reviewed. Results The patient, a boy, whose main clinical features were recurrent epileptic seizures and developmental delay that started from about 1 month after birth. Physical examination showed hypopigmentation on the lower abdomen, right leg and back. Video electroencephalogram(EEG)suggested abnormal infant electroencephalogram, periodic burst inhibition with hypsarrhythmia; cerebral magnetic resonance imaging(MRI)indicated abnormal signal in the bilateral periventricular white matter. Next generation sequencing detected that the patient carried a heterozygous de novo mutation of c.262G>C(P.A88P)in SLC35A2 gene(NM_001042498), which was a spontaneous mutation. After use of antiepileptic drugs such as topiramate, clonazepam, levetiracetam and lamotrigine and treatment with adrenocorticotropic hormone(ACTH)in combination, the seizure frequency was decreased. Conclusion SLC35A2-CDG is a metabolic disease caused by X-linked dominant inheritance of glycoprotein synthesis defects. Currently there is no effective treatment and the suspected cases can get a definite diagnosis by gene detection.

Key words: Congenital disorder of glycosylation, SLC35A2 gene, Gene mutation, Epilepsy, Developmental delay

中图分类号:

R729

孙宇,陈娜,马爱华. SLC35A2基因突变致先天性糖基化障碍1例[J]. 山东大学学报 (医学版), 2021, 59(4): 113-116.

SUN Yu, CHEN Na, MA Aihua. A case of congenital disorder of glycosylation caused by SLC35A2 gene mutation[J]. Journal of Shandong University (Health Sciences), 2021, 59(4): 113-116.

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