一名被诊断为迪尼斯-德拉斯综合征的新生儿中发现的一种新型WT1基因突变。
A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome.
作者信息
Hakan N, Aydin M, Erdogan O, Cavusoglu Y H, Aycan Z, Ozaltin F, Zenciroglu A, Apaydin S, Gunes R, Sahin G, Cinar G, Okumus N
机构信息
Department of Neonatology, Dr. Sami Ulus Maternity and Children's Hospital, Ankara, Turkey.
出版信息
Genet Couns. 2012;23(2):255-61.
Denys-Drash syndrome (DDS) is a rare disorder characterized by glomerulopathy, genital abnormalities and predisposition to Wilms' tumor. It is associated with constitutional Wilms'tumor suppressor 1 (WT1) gene mutations, in which the majority being missense mutations in the zinc-finger region. Here, we present a newborn with DDS, associated with a novel heterozygous missense mutation, p.Asp396His, on exon 9 of WT1.
迪尼-德拉斯综合征（DDS）是一种罕见的疾病，其特征为肾小球病、生殖器异常以及患威尔姆斯瘤的倾向。它与先天性威尔姆斯瘤抑制基因1（WT1）突变有关，其中大多数是锌指区域的错义突变。在此，我们报告一名患有DDS的新生儿，其与WT1基因第9外显子上一个新的杂合错义突变p.Asp396His相关。
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