Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.
Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.
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DOI：
10.1186/1756-0500-5-13
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发表时间：
2012-01-09
影响因子：
1.8
通讯作者：
Kim CA
中科院分区：
文献类型：
--
作者：
Dutra RL;Honjo RS;Kulikowski LD;Fonseca FM;Pieri PC;Jehee FS;Bertola DR;Kim CA
Williams-Beuren综合征（WBS; OMIM 194050）是由7q11.23的半合子连续基因微缺失引起的。主动脉瓣上狭窄（SVAS）、智力迟钝和过度友好是WBS的典型症状。虽然荧光原位杂交（FISH）被认为是金标准技术，微卫星DNA标记和多重连接依赖探针扩增（MLPA）可以用于确定WBS的诊断。我们使用5种标志物（D 7S 1870、D 7S 489、D 7S 613、D 7S 2476和D7S489_A）和市售MLPA试剂盒（P029）对总计88例疑似临床诊断为WBS的患者进行了评价。64例（72.7%）患者存在微缺失，24例（27.3%）患者缺失。64例患者中36例（56.3%）的缺失来源于母亲，28例（43.7%）的缺失来源于父亲。64例患者中57例（89.1%）缺失大小为1.55 Mb，7例（10.9%）缺失大小为1.84 Mb。结果是一致的，使用两种技术，除了4例患者的微卫星标记是没有信息的。缺失的大小或亲本来源均无临床差异。MLPA被认为是一个更快，更经济的方法在一个单一的检测，而微卫星标记可以确定的大小和亲本来源的缺失在WBS。微卫星标记和MLPA技术在WBS缺失检测中是有效的，这两种方法主要为发展中国家提供了有用的诊断策略。
Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness comprise typical symptoms of WBS. Although fluorescence in situ hybridization (FISH) is considered the gold standard technique, the microsatellite DNA markers and multiplex ligation-dependent probe amplification (MLPA) could be used for to confirm the diagnosis of WBS. We have evaluated a total cohort of 88 patients with a suspicion clinical diagnosis of WBS using a collection of five markers (D7S1870, D7S489, D7S613, D7S2476, and D7S489_A) and a commercial MLPA kit (P029). The microdeletion was present in 64 (72.7%) patients and absent in 24 (27.3%) patients. The parental origin of deletion was maternal in 36 of 64 patients (56.3%) paternal in 28 of 64 patients (43.7%). The deletion size was 1.55 Mb in 57 of 64 patients (89.1%) and 1.84 Mb in 7 of 64 patients (10.9%). The results were concordant using both techniques, except for four patients whose microsatellite markers were uninformative. There were no clinical differences in relation to either the size or parental origin of the deletion. MLPA was considered a faster and more economical method in a single assay, whereas the microsatellite markers could determine both the size and parental origin of the deletion in WBS. The microsatellite marker and MLPA techniques are effective in deletion detection in WBS, and both methods provide a useful diagnostic strategy mainly for developing countries.