ATP1A3基因突变致儿童交替性偏瘫2例报告并文献复习

发布时间：2018-02-26 21:24

本文关键词： 交替性偏瘫 ATPA基因儿童　出处：《临床儿科杂志》2017年02期 　论文类型：期刊论文

【摘要】：目的探讨儿童交替性偏瘫的临床表现、基因诊断及治疗方法。方法回顾性分析2例交替性偏瘫患儿的临床资料,并进行相关文献复习。结果 2例患儿均为女性,分别于4月龄、6月龄起病,1例的首发症状为交替性偏瘫,另1例的首发症状为惊厥,并于病程第2年出现交替性偏瘫。ATP1A3基因测序显示,2例患儿分别存在c.2401GA(p.D801N)和c.2731GC(p.A911P)杂合错义突变,后者在人类基因突变数据库(HGMD)专业版中尚未见报道。结论对临床诊断交替性偏瘫的患儿,建议行ATP1A3基因筛查,有助于确诊及遗传咨询。
[Abstract]:Objective to investigate the clinical manifestations, gene diagnosis and treatment of children with alternating hemiplegia. Methods the clinical data of 2 children with alternating hemiplegia were retrospectively analyzed and the related literature was reviewed. The first symptom of the disease was alternant hemiplegia in 1 case and convulsion in the other case. The sequence of the gene of the alternant hemiplegia and ATP-1A3 gene showed that there were two heterozygous missense mutations of c. 2401GA p. D801N and c. 2731GCp.A911P, respectively. The latter has not been reported in the professional edition of Human Gene mutation Database (HGMD). Conclusion for children with alternating hemiplegia, ATP1A3 gene screening is recommended for diagnosis and genetic counseling.
【作者单位】：重庆医科大学附属儿童医院儿童发育疾病研究教育部重点实验室儿童发育重大疾病国家国际科技合作基地儿科学重庆市重点实验室;

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