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Mutation Update for the PORCN Gene

In English

Författare

  • Maria Paola Lombardi
  • Saskia Bulk
  • Jacopo Celli
  • Anne Lampe
  • Michael T. Gabbett
  • Lillian Bomme Ousager
  • Jasper J. van der Smagt
  • Maria Soller
  • Eva-Lena Stattin
  • Marcel A. M. M. Mannens
  • Robert Smigiel
  • Raoul C. Hennekam
Visa allt

Summary, in English

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.

Publiceringsår

2011

Språk

Engelska

Sidor

723-728

Publikation/Tidskrift/Serie

Human Mutation

Volym

32

Issue

7

Dokumenttyp

Artikel i tidskrift

Förlag

John Wiley & Sons Inc.

Ämne

  • Medical Genetics

Nyckelord

  • Goltz Gorlin syndrome
  • PORCN
  • FDH
  • LOVD database

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1059-7794