在具有不太典型表型的CHARGE综合征患者中通过多重连接探针扩增技术检测CHD7缺失。
Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype.
作者信息
Wincent Josephine, Schulze Astrid, Schoumans Jacqueline
出版信息
Eur J Med Genet. 2009 Jul-Aug;52(4):271-2. doi: 10.1016/j.ejmg.2009.02.005. Epub 2009 Feb 25.
Bergman et al. performed a search for exon copy number alterations in the CHD7 gene using MLPA in CHARGE syndrome patients who did not have a CHD7 mutation. Based on their results they recommended to extend testing using MLPA solely in individuals with a typical CHARGE syndrome phenotype. However, since we have found deletions comprising the CHD7 gene in three patients with a less typical phenotype we recommend performing MLPA testing in all CHARGE syndrome patients without causal CHD7 mutations.
伯格曼等人对没有CHD7基因突变的CHARGE综合征患者，使用多重连接探针扩增技术（MLPA）搜索CHD7基因外显子拷贝数改变。基于他们的结果，他们建议仅对具有典型CHARGE综合征表型的个体扩大使用MLPA进行检测。然而，由于我们在三名具有不太典型表型的患者中发现了包含CHD7基因的缺失，我们建议对所有没有CHD7基因致病突变的CHARGE综合征患者进行MLPA检测。
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