Mutation update for the PORCN gene

Lombardi, Maria Paola, Bulk, Saskia, Celli, Jacopo, Lampe, Anne, Gabbett, Michael T., Ousager, Lillian Bomme, van der Smagt, Jasper J., Soller, Maria, Stattin, Eva-Lena, Mannens, Marcel A. M. M., Smigiel, Robert and Hennekam, Raoul C. (2011) Mutation update for the PORCN gene. Human Mutation, 32 7: 723-728. doi:10.1002/humu.21505

Author Lombardi, Maria Paola
Bulk, Saskia
Celli, Jacopo
Lampe, Anne
Gabbett, Michael T.
Ousager, Lillian Bomme
van der Smagt, Jasper J.
Soller, Maria
Stattin, Eva-Lena
Mannens, Marcel A. M. M.
Smigiel, Robert
Hennekam, Raoul C.
Title Mutation update for the PORCN gene
Formatted title
Mutation update for the PORCN gene
Journal name Human Mutation   Check publisher's open access policy
ISSN 1059-7794
Publication date 2011-07
Sub-type Article (original research)
DOI 10.1002/humu.21505
Volume 32
Issue 7
Start page 723
End page 728
Total pages 6
Place of publication Hoboken, NJ, U.S.A.
Publisher John Wiley & Sons, Inc.
Collection year 2012
Language eng
Formatted abstract
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 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.
Keyword Goltz Gorlin syndrome
LOVD database
Focal dermal hypoplasia
Body wall complex
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Medicine Publications
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