染色体9q34．11微缺失可能致一患儿脑瘫  

A microdeletion of chromosome 9q34. 11 may cause suspected cerebral palsy

作　　者：李海波[1] 陈瑛[1] 李琼[1] 刘敏娟[1] 毛君[1] 宋丹[1] 李红[1] 

机构地区：[1]南京医科大学附属苏州医院生殖与遗传中心,226001

出　　处：《中华医学遗传学杂志》2014年第6期725-729,共5页Chinese Journal of Medical Genetics

基　　金：江苏省临床医学科技专项（BL2013019）;苏州市生殖与遗传转化医学重点实验室项目（SZS201206）

摘　　要：目的探讨1例因不明原因轻度脑瘫伴精神运动发育落后患者的遗传学病因。方法对患儿及核心家系成员进行常规遗传咨询，抽取外周血进行染色体G显带核型分析，应用微阵列比较基因组杂交（array-comparative genomic hybridization, aCGH）技术进行全基因组拷贝数分析，并采用多重连接依赖探针扩增（multiplex ligation dependent probe amplification, MLPA）对aCGH的结果进行验证，经数据库比对和文献分析以明确异常区域的病理意义。结果该患儿G显带核型分析未见染色体异常，26种遗传代谢病检测均未见明显异常。aCGH检测发现染色体9q34．11区存在2．11Mb的缺失，该区域包含SPTANl、TORIA等近50个基因，其功能与智力低下、早期婴儿痉挛、癫痫性脑病、髓鞘形成不良、肌张力失常等相关。MLPA验证结果与aCGH一致。结论染色体9q34．11区域约2．11Mb微缺失可能为该疑似脑瘫患儿的主要致病原因。MLPA、aCGH等技术联合应用有助于为临床诊疗提供准确的遗传学依据。Objective To identify the genetic cause for a child with mental retardation and dyskinesia. Methods After the routine genetic counseling for the child and the core family members, Conventional peripheral blood karyotyping with G-banding and tandem mass spectrometry were applied to find the common genetic problems. Array-comparative genomic hybridization （aCGH） based on the whole genome level was performed to detect minor chromosomal structural abnormalities and the result was confirmed by multiplex ligation dependent probe amplification （MLPA）. Results The proband＇s karyotype was normal. There were not obvious abnormalities for the testing of 26 types of congenital metabolic diseases. A --2.11 Mb microdeletion of chromosome 9q34. 11 region was found though aCGH, which including SPTAN1, TOR1A and other nearly 50 genes related to mental retardation, early infantile spasms, epileptic encephalopathy, myelin dysplasia and dystonia. The -2.11 Mb chromosomal microdeletion was identified by MLPA. Conclusion The 2.11 Mb microdeletion of chromosome 9q34. 11 region may lead to suspected cerebral palsy. Cytogenetic methods combined with MLPA and aCGH can efficiently identify genetic etiology and provide accurate results for clinical diagnosis.

关 键 词：脑性瘫痪 核型分析 微阵列比较基因组杂交 多重连接依赖探针扩增 

分 类 号：R742.3[医药卫生—神经病学与精神病学]