TY - JOUR
T1 - Mutation update for the PORCN gene
AU - Lombardi, Maria Paola
AU - Bulk, Saskia
AU - Celli, Jacopo
AU - Lampe, Anne
AU - Gabbett, Michael T.
AU - Ousager, Lillian Bomme
AU - van der Smagt, Jasper J.
AU - Soller, Maria
AU - Stattin, Eva-Lena
AU - Mannens, Marcel A. M. M.
AU - Smigiel, Robert
AU - Hennekam, Raoul C.
PY - 2011
Y1 - 2011
N2 - 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
AB - 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
U2 - https://doi.org/10.1002/humu.21505
DO - https://doi.org/10.1002/humu.21505
M3 - Article
C2 - 21472892
SN - 1059-7794
VL - 32
SP - 723
EP - 728
JO - Human mutation
JF - Human mutation
IS - 7
ER -