IR@PKUHSC  > 北京大学第一临床医学院  > 儿科
学科主题临床医学
Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder
Chen, Xiaoli1; Wang, Jingmin2; Xie, Hua1; Zhou, Wenjuan2; Wu, Ye2; Wang, Jun3; Qin, Jian4; Guo, Jin1; Gu, Qiang2; Zhang, Xiaozhen5; Ji, Taoyun2; Zhang, Yu1; Xiong, Zhiming6; Wang, Liwen1; Wu, Xiru2; Latham, Gary J.7; Jiang, Yuwu1,2
关键词Chinese Children Intellectual Developmental Disorder Fmr1 Fragile x Syndrome Triplet Repeat Primed (Tp)-pcr
刊名BMC PEDIATRICS
2015-07-15
DOI10.1186/s12887-015-0394-8
15
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Pediatrics
研究领域[WOS]Pediatrics
关键词[WOS]REPEAT PRIMED PCR ; MENTAL-RETARDATION ; CGG REPEAT ; FMR1 GENE ; EXPANDED ALLELES ; AGG INTERRUPTIONS ; DELETION ; INDIVIDUALS ; PHENOTYPE ; DIAGNOSIS
英文摘要

Background: Fragile X syndrome is the most common genetic disorder of intellectual developmental disorder/mental retardation (IDD/MR). The prevalence of FXS in a Chinese IDD children seeking diagnosis/treatment in mainland China is unknown.

Methods: Patients with unknown moderate to severe IDD were recruited from two children′s hospitals. Informed consent was obtained from the children′s parents. The size of the CGG repeat was identified using a commercial TP-PCR assay. The influence of AGG interruptions on the CGG expansion during maternal transmission was analyzed in 24 mother-son pairs (10 pairs with 1 AGG and 14 pairs with 2 AGGs).

Results: 553 unrelated patients between six months and eighteen years of age were recruited. Specimens from 540 patients (male: female = 5.2:1) produced high-quality TP-PCR data, resulting in the determination of the FMR1 CGG repeat number for each. The most common repeat numbers were 29 and 30, and the most frequent interruption pattern was 2 or 3 AGGs. Five full mutations were identified (1 familial and 4 sporadic IDD patients), and size mosaicism was apparent in 4 of these FXS patients (4/5 = 80 %). The overall yield of FXS in the IDD cohort was 0.93 % (5/540). Neither the mean size of CGG expansion (0.20 vs. 0.79, p > 0.05) nor the frequency of CGG expansion (2/10 vs. 9/14, p > 0.05) was significantly different between the 1 and 2 AGG groups following maternal transmission.

Conclusions: The FMR1 TP-PCR assay generates reliable and sensitive results across a large number of patient specimens, and is suitable for clinical genetic diagnosis. Using this assay, the prevalence of FXS was 0.93 % in Chinese children with unknown IDD.

语种英语
WOS记录号WOS:000357851800001
项目编号81100841 ; 7081004 ; 201002006 ; Z131107002213159 ; 2014-2-1131
资助机构National Nature Science Fund ; Natural Science Foundation of Beijing ; Special Research Foundation of Ministry of Health, P.R.C ; Beijing Municipal Science &amp ; Technology Commission ; capital health research and development of special ; Beijing Science and Technology
引用统计
被引频次:5[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53076
专题北京大学第一临床医学院_儿科
作者单位1.Capital Inst Pediat, Municipal Key Lab Child Dev & Nutri, Beijing, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
3.Capital Inst Pediat, Affiliated Childrens Hosp, Dept Neurol, Beijing, Peoples R China
4.Beijing Microread Genetech Co Ltd, Beijing, Peoples R China
5.Jiangxi Previncial Childrens Hosp, Dept Genet, Suzhou, Jiangxi, Peoples R China
6.Cent S Univ, State Key Lab Med Genet, Changsha, Hunan, Peoples R China
7.Asuragen Inc, Res & Technol Dev, Austin, TX USA
推荐引用方式
GB/T 7714
Chen, Xiaoli,Wang, Jingmin,Xie, Hua,et al. Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder[J]. BMC PEDIATRICS,2015,15.
APA Chen, Xiaoli.,Wang, Jingmin.,Xie, Hua.,Zhou, Wenjuan.,Wu, Ye.,...&Jiang, Yuwu.(2015).Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.BMC PEDIATRICS,15.
MLA Chen, Xiaoli,et al."Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder".BMC PEDIATRICS 15(2015).
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