摘要
目的探讨结节性硬化伴或不伴婴儿痉挛表型与基因型的相关性。方法选择临床诊断结节性硬化的15例患儿为研究对象,8例伴婴儿痉挛,7例不伴婴儿痉挛,分析其临床表现、结节性硬化基因突变特征。结果 7例伴婴儿痉挛的结节性硬化患儿存在TSC2基因突变,发现5种新突变位点:c.4305_4306delAG,c.4255_4258delCAGT,c.4734_4735insGGCC,c.4245delG,c.1901_1902insAT;6例不伴婴儿痉挛的结节性硬化患儿也存在TSC2基因突变,包括2种新突变:c.246G>A,c.3691_3694delCTGT;另有1例为TSC1基因突变。结论结节性硬化基因突变类型及位点与结节性硬化伴或不伴婴儿痉挛表型的关系不明确。
Objectives To investigate the characteristics of the clinical phenotype and gene mutations in patients with tuberous sclerosis complex (TSC) with/without infantile spasms (IS). Methods Fifteen infants with TSC were en- rolled in the study, 8 were with IS and 7 without. Their clinical manifestations and mutations of TSC gene were analyzed. Results A total of 5 novel TSC2 mutations, c.4305 4306delAG, c.4255_4258delCAGT, c.4734_4735insGGCC, c.4245delG, c.1901_1902insAT, were identified in 7 TSC cases with IS. TSC2 mutations were also found in 6 TSC cases without IS, 2 of mutations (c.246G〉A, c.3691 3694delCTGT) were new. Besides, one TSC1 mutation was detected in a TSC infant without IS. Conclusions The correlations between genotype and phenotype in TSC with/without IS are not clear based on this study.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2013年第2期141-146,共6页
Journal of Clinical Pediatrics
基金
国家重点基础研究发展(九七三)计划(No.2012CB517903)
国家自然科学基金资助项目(No.30770747和81071036)
国家自然科学基金国际合作与交流(No.81211140048)
国家自然科学基金青年基金项目资助(No.81201013)
北京市自然科学基金资助项目(No.7081002)
北京首发基金资助项目(No.2003-2037)
卫生行业专项科研基金资助项目(No.200802074)
首都临床特色应用研究面上项目资助(No.Z121107001012056)
关键词
结节性硬化
婴儿
痉挛
表型
基因
突变
tuberous sclerosis
infantile
spasms
phenotype
genes
mutation