title: Mutation update for the PORCN gene.
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.
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Lombardi
authors.forename: Saskia
authors.initials: S
authors.lastname: Bulk
authors.forename: Jacopo
authors.initials: J
authors.lastname: Celli
authors.forename: Anne
authors.initials: A
authors.lastname: Lampe
authors.forename: Michael T
authors.initials: MT
authors.lastname: Gabbett
authors.forename: Lillian Bomme
authors.initials: LB
authors.lastname: Ousager
authors.forename: Jasper J
authors.initials: JJ
authors.lastname: van der Smagt
authors.forename: Maria
authors.initials: M
authors.lastname: Soller
authors.forename: Eva-Lena
authors.initials: EL
authors.lastname: Stattin
authors.forename: Marcel A M M
authors.initials: MA
authors.lastname: Mannens
authors.forename: Robert
authors.initials: R
authors.lastname: Smigiel
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000217:Acyltransferases; D030541:Databases, Genetic; D005489:Focal Dermal Hypoplasia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D020407:Internet; D008565:Membrane Proteins / Q000235:genetics*; D058502:Pentalogy of Cantrell / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D017445:Skin Diseases, Vascular / Q000151:congenital / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human