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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 LU ; Stattin, Eva-Lena and Mannens, Marcel A. M. M., et al. (2011) In Human Mutation 32(7). p.723-728
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,... (More)
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. Hum Mutat 32:723-728, 2011. (C) 2011 Wiley-Liss, Inc. (Less)
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publication status
published
subject
keywords
Goltz Gorlin syndrome, PORCN, FDH, LOVD database
in
Human Mutation
volume
32
issue
7
pages
723 - 728
publisher
John Wiley & Sons
external identifiers
  • wos:000292551800004
  • scopus:79959731913
ISSN
1059-7794
DOI
10.1002/humu.21505
language
English
LU publication?
yes
id
949ff176-52ac-4424-938d-5015eaf07ec1 (old id 2029034)
date added to LUP
2011-08-02 08:56:29
date last changed
2017-10-29 03:02:14
@article{949ff176-52ac-4424-938d-5015eaf07ec1,
  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 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. Hum Mutat 32:723-728, 2011. (C) 2011 Wiley-Liss, Inc.},
  author       = {Lombardi, Maria Paola and Bulk, Saskia and Celli, Jacopo and Lampe, Anne and Gabbett, Michael T. and Ousager, Lillian Bomme and van der Smagt, Jasper J. and Soller, Maria and Stattin, Eva-Lena and Mannens, Marcel A. M. M. and Smigiel, Robert and Hennekam, Raoul C.},
  issn         = {1059-7794},
  keyword      = {Goltz Gorlin syndrome,PORCN,FDH,LOVD database},
  language     = {eng},
  number       = {7},
  pages        = {723--728},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {Mutation Update for the PORCN Gene},
  url          = {http://dx.doi.org/10.1002/humu.21505},
  volume       = {32},
  year         = {2011},
}