Periventricular nodular heterotopia and Williams syndrome
Periventricular nodular heterotopia and Williams syndrome
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DOI：
10.1002/ajmg.a.31259
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发表时间：
2006-06-15
影响因子：
2
通讯作者：
Sheen, Volney L.
中科院分区：
文献类型：
--
作者：
Ferland, Russell J.;Gaitanis, John N.;Sheen, Volney L.
我们在此报告第一例儿童双侧脑室周围结节性异位（PNH）和威廉姆斯综合征。荧光原位杂交（FISH）分析表明，在威廉姆斯综合征的关键区域（WSCR）的弹性蛋白基因的缺失。通过微卫星标记和SNP分析的杂合性丢失分析进一步作图表明典型WSCR的端粒末端以外有1.5 Mb的缺失。在X连锁细丝蛋白A基因（PNH的最常见原因）中未发现突变。这些发现表明另一个显性PNH疾病沿着染色体7q11.23。(c)2006 Wiley-Liss，Inc.
We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critical region (WSCR). Further mapping by loss of heterozygosity analysis both by microsatellite marker and SNP profiling demonstrated a 1.5 Mb deletion beyond the telomeric end of the typical WSCR. No mutations were identified in the X-linked filamin-A gene (the most common cause of PNH). These findings suggest another dominant PNH disorder along chromosome 7q11.23. (c) 2006 Wiley-Liss, Inc.