【摘要】：回顧性分析5例陣發(fā)性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙(PKD)患兒的臨床表現(xiàn),并利用高通量測(cè)序及染色體微陣列技術(shù)分析患者的基因突變。5例患者中4例男性、1例女性,發(fā)病年齡為6~9歲。均因突然的運(yùn)動(dòng)、轉(zhuǎn)身、驚嚇或者精神緊張等因素誘發(fā),表現(xiàn)為單側(cè)或雙側(cè)的肢體姿勢(shì)異常、手足徐動(dòng)、面部肌肉抽搐以及身體姿勢(shì)異常等,無(wú)意識(shí)障礙。發(fā)作頻率從每月3~5次到每天2~7次,每次發(fā)作持續(xù)時(shí)間不超過(guò)30 s。腦電圖均未見(jiàn)異常。3例患者均有類(lèi)似發(fā)作的家族史。高通量測(cè)序發(fā)現(xiàn)4例患者存在PKD致病基因富脯氨酸跨膜蛋白2(PRRT2)突變,其中2例為c.649_650ins C(p.R217Pfs X8)雜合突變,1例為c.436CT(p.P146S)突變,1例為IVS2-1GA剪接位點(diǎn)突變,c.436CT與IVS2-1GA是未見(jiàn)報(bào)道的新發(fā)突變。對(duì)于基因檢測(cè)陰性的1例患者行基因芯片檢測(cè),發(fā)現(xiàn)16號(hào)染色體p11.2區(qū)域缺失,大小為0.55 M。5例患者予以低劑量卡馬西平治療,均有效。PKD是一種罕見(jiàn)的神經(jīng)系統(tǒng)發(fā)作性疾病,多種遺傳學(xué)分析技術(shù)進(jìn)行PRRT2基因檢測(cè)有助于確診。
[Abstract]:The clinical manifestations of 5 children with paroxysmal motor induced dyskinesia (PKD) were analyzed retrospectively, and gene mutations were analyzed by high-throughput sequencing and chromosome microarray techniques. The age of onset was 6 to 9 years old. All of them were induced by sudden movement, turning around, fright or mental stress, such as abnormal limb posture on one or both sides, hand and foot creep, facial muscle convulsion and abnormal body posture, etc. The frequency of attack was from 5 times per month to 2 times a day, and the duration of each attack was not more than 30 s. There was no abnormal EEG. 3 patients had a family history of similar seizures. High throughput sequencing revealed the presence of proline rich transmembrane protein 2 (PRRT2) mutations in the PKD pathogenicity gene in 4 patients, including c.649_650ins C (p.R217Pfs X8) heterozygosity in 2 cases and c.436CT (p.P146S) mutation in 1 case. One case of IVS2-1GA splicing site mutation, c.436CT and IVS2-1GA are not reported new mutation. One patient with negative gene test was detected by microarray analysis. The deletion of p11.2 region on chromosome 16 was found, and low dose carbamazepine was given to 0.55 M.5 patients. PKD is a rare paroxysmal disease of the nervous system. A variety of genetic analysis techniques for PRRT2 gene detection is helpful for diagnosis.
【作者單位】： 武漢大學(xué)人民醫(yī)院兒科;
【分類(lèi)號(hào)】：R748

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