| 摘要: |
| 目的：探讨婴儿痉挛症的遗传学病因。方法：回顾性分析2016年10月至2018年10月于我院就诊的132例婴儿痉挛症患儿的临床资料，对其中病因未明的91患儿采集静脉血，应用染色体核型分析和新一代高通量测序技术进行染色体检测及全外显子基因检测。结果：共收集存在明确致病性染色体或基因结构异常的患儿37例，其中染色体数目异常4例，均为21-三体综合征；染色体微缺失5例，其中15号染色体微缺失4例，16号染色体微缺失1例；其余为单基因病变，高频基因包括TSC2、CDKL5、PCDH19、SCN1A、KCNQ2、MMACHC等。结论：本研究中婴儿痉挛症遗传学病因总阳性率为28%，对病因未明的婴儿痉挛患儿应行染色体核型、全外显子测序检查。 |
| 关键词: 婴儿痉挛 基因 染色体 |
| DOI：doi:10.13407/ j.cnki.jpp.1672-108X.2019.10.002 |
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| 基金项目:河北省医学科学研究课题计划,编号20190788。 |
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| Genetic Etiology of Infantile Spasm |
| 艾奎，边俊梅，李桢 |
| (武汉市第三医院光谷院区，武汉 430074) |
| Abstract: |
| Objective: To explore the genetic etiology of infantile spasm. Methods: Clinical data of 132 infants with infantile spasm from Oct. 2016 to Oct. 2018 were retrospectively collected. Venous blood was collected from 91 infants with unknown etiology. Chromosome karyotype analysis and next generation high-throughput sequencing were used to detect the chromosome and the whole exon genes. Results: A total of 37 children with abnormal chromosome or gene structure were collected. There were 4 cases with abnormal chromosome number, all of which were Down syndrome; 5 cases with chromosomal microdeletion: 4 cases of 15 chromosomal microdeletion and 1 case of 16 chromosomal microdeletion; the rest were single gene lesions, with high frequency genes including TSC2, CDKL5, PCDH19, SCN1A, KCNQ2 and MMACHC, etc. Conclusion: The genetic etiology of infantile spasm in this study is 28%. Children with infantile spasm whose etiology is unknown should be examined by chromosome karyotype and the whole exon genes sequencing. |
| Key words: infantile spasm gene chromosome |
