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学科主题: 临床医学
题名:
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations
作者: Zang, Lili1; Wang, Jingmin1; Jiang, Yuwu1; Gu, Qiang1; Gao, Zhijie1; Yang, Yanling1; Xiao, Jiangxi2; Wu, Ye1
关键词: Alexander disease ; Chinese ; follow-up study ; GFAP ; parental origin
刊名: JOURNAL OF HUMAN GENETICS
发表日期: 2013-04-01
DOI: 10.1038/jhg.2012.152
卷: 58, 期:4, 页:183-188
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: FIBRILLARY ACIDIC PROTEIN ; STRESS ; GENE ; INFANTILE ; JUVENILE ; LESIONS ; ONSET ; MODEL
英文摘要:

To delineate the phenotype and genotype in Chinese children with type I Alexander disease (AxD) and the parental origin of de novo glial fibrillary acidic protein (GFAP) mutations. Twenty-two children with clinically diagnosed type I AxD were followed up for 1.66-6.62 years. Allele-specific PCR was used for the analysis of parental origin of the allele harboring the de novo mutation. Phenotype of these patients were consistent with type I AxD described in other population, with developmental delay (motor delay in 81.82%, cognitive delay in 63.64%), macrocephaly (100%), seizures (95.45%), paroxysmal deterioration (27.27%) and typical brain magnetic resonance imaging (100%). Progression was slower than reported. At 8.55 years of age (5.29-13.25), all patients who underwent the second follow-up were alive. Eleven heterozygous missense mutations of GFAP were identified in 21 patients, with three novel mutations. Reported hot spot mutations, p.R79, p.R239 and p.R88, were also identified in Chinese patients. Mutations were de novo in all but one case. The mother of a proband was demonstrated to be a presymptomatic patient with type II AxD with a p.R79H mutation. Ninety percent of de novo mutations were on the paternal allele demonstrated by allele-specific PCR. This is the largest follow-up study on Chinese children with AxD. The phenotypes of these patients are consistent with reports in other populations. GFAP mutations were identified in 95.46% of Chinese children with clinically diagnosed type I AxD. Our data suggested a male germ-line transmission. Journal of Human Genetics (2013) 58, 183-188; doi: 10.1038/jhg.2012.152; published online 31 January 2013

语种: 英语
所属项目编号: 81171065
项目资助者: program for new century excellent talents in university from the Chinese Ministry of Education ; Natural Science Foundation of China
WOS记录号: WOS:000318012700003
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/66681
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
2.Peking Univ, Dept Radiol, Hosp 1, Beijing 100034, Peoples R China

Recommended Citation:
Zang, Lili,Wang, Jingmin,Jiang, Yuwu,et al. Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations[J]. JOURNAL OF HUMAN GENETICS,2013,58(4):183-188.
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