阵发性运动诱发性运动障碍患者的临床表现及基因诊断

发布时间：2018-11-08 13:48

【摘要】：回顾性分析5例阵发性运动诱发性运动障碍(PKD)患儿的临床表现,并利用高通量测序及染色体微阵列技术分析患者的基因突变。5例患者中4例男性、1例女性,发病年龄为6~9岁。均因突然的运动、转身、惊吓或者精神紧张等因素诱发,表现为单侧或双侧的肢体姿势异常、手足徐动、面部肌肉抽搐以及身体姿势异常等,无意识障碍。发作频率从每月3~5次到每天2~7次,每次发作持续时间不超过30 s。脑电图均未见异常。3例患者均有类似发作的家族史。高通量测序发现4例患者存在PKD致病基因富脯氨酸跨膜蛋白2(PRRT2)突变,其中2例为c.649_650ins C(p.R217Pfs X8)杂合突变,1例为c.436CT(p.P146S)突变,1例为IVS2-1GA剪接位点突变,c.436CT与IVS2-1GA是未见报道的新发突变。对于基因检测阴性的1例患者行基因芯片检测,发现16号染色体p11.2区域缺失,大小为0.55 M。5例患者予以低剂量卡马西平治疗,均有效。PKD是一种罕见的神经系统发作性疾病,多种遗传学分析技术进行PRRT2基因检测有助于确诊。
[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.
【作者单位】：武汉大学人民医院儿科;
【分类号】：R748

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