Mutation Update for the PORCN Gene

Maria Paola Lombardi (1) , Raoul Cm Hennekam (2) , Saskia Bulk (3) , Jacopo Celli (4) , Anne Lampe (5) , Michael Gabbett (6) , Lillian Bomme-Ousager (7) , Jasper J van Der Smagt (8) , Maria Soller (9) , Eva-Lena Stattin (10) , Robert Smigiel (11) , Marcel M.A.M Mannens (12)

1 Dept Clinical Genetics
2 Department of Pediatrics, Academic Medical Center
3 Deaprtment of Clinical Genetics
4 Center for Human and Clinical Genetics
5 Department of Clinical Genetics
6 Royal Brsibane and Womens' Hospital, The University of Queensland
7 Department of Pediatrics
8 Medical Genetics
9 Skane University Hospital [Lund]
10 Deapartment of Medical and Clinical Genetics
11 Genetics Department
12 Clinical Genetics

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 7 new mutations together with the corresponding clinical data. Based on the review we have created a web-based locus specific database which 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.

Mots clés: Life Sciences

Maria Paola Lombardi, Raoul Cm Hennekam, Saskia Bulk, Jacopo Celli, Anne Lampe, et al.. Mutation Update for the PORCN Gene. Human Mutation, 2011, 32 (7), pp.723. ⟨10.1002/humu.21505⟩. ⟨hal-00654141⟩