| 钟少君,李承燕,王优,荣诗雯,刘玲,林永文,敖当.MECP2基因变异所致Rett综合征患儿1例的临床表型与遗传学分析[J].中国医药导报,2024,21(5):189-192 |
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| MECP2基因变异所致Rett综合征患儿1例的临床表型与遗传学分析 |
| Clinical phenotype and genetic analysis of one children with Rett syndrome caused by MECP2 gene variats |
| 收稿日期： 修订日期：2023-07-31 |
| DOI：10.20047/j.issn1673-7210.2024.05.45 |
| 关键词: MECP2基因 Rett综合征 癫痫 发育落后 |
| Key Words: |
| 基金项目:广东省基础与应用基础研究基金项目（2019A 1515110564） |
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| 摘要:本文探讨MECP2基因变异所致Rett综合征的临床表型与遗传学病因，分析了1例因“发育落后”就诊于广东医科大学附属医院，最终确诊为Rett综合征女性患儿的基因型及临床表型。患儿婴幼儿期起病，有发育迟缓、手部刻板动作、癫痫发作、技能及语言丧失、智力低下及步态异常，查体提示头围小、四肢肌张力低下；检查发现异常视频脑电图，基因检测提示MECP2基因的新生杂合变异，为错义变异c.710C＞G（p.Pro237Arg），诊断典型Rett综合征，予丙戊酸钠、拉莫三嗪抗癫痫治疗及物理刺激干预如脑深部电刺激、经颅磁刺激等处理可以缓解该Rett综合征患者神经元的病理表型，基因检测为Rett综合征最独特的诊断依据，早期基因检测诊断与治疗可改善预后，为遗传咨询及产前诊断提供重要参考依据。 |
| Abstract:The study investigates the clinical phenotype and genetic etiology of Rett syndrome caused by MECP2 gene variation. The genotypes and clinical phenotypes of a female child with Rett syndrome who was diagnosed with developmental retardation at the Affiliated Hospital of Guangdong Medical University were analyzed. The onset of the disease in infants was developmental delay, rigid hand movements, seizures, loss of skills and language, mental retardation and abnormal gait. Physical examination indicated small head circumference, and low muscle tone in limbs; Abnormal video electroencephalogram was detected, and gene detection indicated a new heterozygous mutation of MECP2 gene, which was missense mutation c.710C＞G (p.ro237Arg). For diagnosis of typical Rett syndrome, antiepileptic therapy with sodium valproate, lamotrigine, and physical stimulation interventions such as deep brain stimulation, and transcranial magnetic stimulation can alleviate the pathological phenotype of neurons in patients with Rett syndrome. Genetic testing is the most unique diagnostic basis for Rett syndrome. Early diagnosis and treatment of genetic testing can improve prognosis and provide important reference for genetic counseling and prenatal diagnosis. |
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