Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age.
Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age.
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DOI：
10.1186/1471-2350-13-99
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发表时间：
2012-11-01
影响因子：
--
通讯作者：
Mitchell EA
中科院分区：
文献类型：
--
作者：
Murphy R;Mackay D;Mitchell EA
白细胞DNA 11p15染色体上印迹控制区（ICR） 1甲基化缺失（LOM）或ICR 2甲基化缺失（LOM）通常分别用于诊断以生长受限为特征的印迹疾病银罗素综合征（Silver Russell syndrome， SRS）或以过度生长为特征的贝克威德曼综合征（Beckwith Wiedemann syndrome， BWS）。一名健康的19岁吸烟母亲（G2P1）在妊娠38周正常怀孕并剖腹产下一名婴儿，SGA（出生体重SDS - 2.44），胎盘重量250g（组织学正常），伴有脐疝和一过性新生儿低血糖，但无BWS的其他特征。通过多重连接依赖探针扩增（MLPA）初步研究了11p15区域的甲基化状态。随后，采用甲基化特异性（ms） PCR筛选PLAG1 （6q24）、IGF2R （6q27）、GRB10 （7p12）、PEG1/MEST （7q32）、DLK1 （14q32）、SNRPN （15q11）等印迹位点的异常；PEG3 (19q32), NESPAS/GNAS （20q13）。MLPA和ms-PCR结果显示，白细胞DNA甲基化在ICR1位点正常，但在ICR2位点明显降低，印迹未发现其他异常。口腔DNA甲基化在所有印迹位点检测正常。这是首次报道在没有明显SRS或BWS的正常妊娠单胎SGA儿童中，白细胞ICR2处分离的LOM，而不是颊DNA。
Loss of methylation (LOM) at imprinting control region (ICR) 1 or LOM at ICR 2 on chromosome 11p15 in leucocyte DNA is commonly used to diagnose the imprinting disorders Silver Russell syndrome (SRS) characterized by growth restriction or Beckwith Wiedemann syndrome (BWS) characterized by overgrowth, respectively. A child was normally conceived and born by caesarian section to a healthy 19 year old smoking mother (G2P1) at 38 weeks gestation, with SGA (birthweight SDS −2.44), placenta weight 250g (normal histology), with an umbilical hernia and transient neonatal hypoglycemia but no other features of BWS. The methylation status at 11p15 region was initially investigated by multiplex ligation dependent probe amplification (MLPA). Subsequently, methylation-specific (ms) PCR was performed to screen for this and other imprinted loci abnormalities at PLAG1 (6q24), IGF2R (6q27), GRB10 (7p12), PEG1/MEST (7q32), DLK1 (14q32), SNRPN (15q11); PEG3 (19q32), NESPAS/GNAS (20q13). Leucocyte DNA methylation was normal at ICR1 but markedly reduced at ICR2 using both MLPA and ms-PCR, and no other anomalies of imprinting were detected. Buccal DNA methylation was normal at all imprinted sites tested. This is the first report of an isolated LOM at ICR2 in leucocyte but not buccal DNA in a normally conceived singleton SGA child without overt SRS or BWS.
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影响因子：
30.8
作者：
Gicquel, C;Rossignol, S;Le Bouc, Y
通讯作者：
Le Bouc, Y
影响因子：
3.5
作者：
Begemann, M.;Spengler, S.;Eggermann, T.
通讯作者：
Eggermann, T.
影响因子：
3.5
作者：
Weksberg, R;Smith, AC;Sadowski, P
通讯作者：
Sadowski, P
DOI：
10.1002/ajmg.1320420440
发表时间：
1992-02-15
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
CLAYTONSMITH, J;READ, AP;DONNAI, D
通讯作者：
DONNAI, D
影响因子：
5.2
作者：
Bliek, Jet;Alders, Marielle;Mannens, Marcel M. A. M.
通讯作者：
Mannens, Marcel M. A. M.