Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
Hum Mutat. 2011 Jul;32(7):723-8. doi: 10.1002/humu.21505. Epub 2011 Jun 21.
Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then, several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum, the pentalogy of Cantrell and Limb-Body Wall Complex. Here we present a review of the published mutations in the PORCN gene to date and report on seven new mutations together with the corresponding clinical data. Based on the review we have created a Web-based locus-specific database that lists all identified variants and allows the inclusion of future reports. The database is based on the Leiden Open (source) Variation Database (LOVD) software, and is accessible online at http://www.lovd.nl/porcn. At present, the database contains 106 variants, representing 68 different mutations, scattered along the whole coding sequence of the PORCN gene, and 12 large gene rearrangements, which brings up to 80 the number of unique mutations identified in Goltz-Gorlin syndrome patients.
PORCN 基因突变于 2007 年首次在 Goltz-Gorlin 综合征患者中被发现。从那时起，已有数份报告描述了多种导致 Goltz-Gorlin 综合征的基因缺陷，并且在血管瘤性匐行疹、Cantrell 五联征和肢体-体壁综合征中也报道了突变或缺失。在这里，我们对迄今为止已发表的 PORCN 基因突变进行了综述，并报告了七个新的突变及其相应的临床数据。基于综述，我们创建了一个基于网络的特定基因座数据库，其中列出了所有已识别的变体，并允许纳入未来的报告。该数据库基于莱顿开放（源）变异数据库（LOVD）软件，可在线访问，网址为 http://www.lovd.nl/porcn。目前，该数据库包含 106 个变体，代表 68 种不同的突变，分布在 PORCN 基因的整个编码序列中，以及 12 个大的基因重排，这使得在 Goltz-Gorlin 综合征患者中鉴定出的独特突变数量增加到 80 个。
