We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
- Authors
Grzeschik, Karl-Heinz; Bornholdt, Dorothea; Oeffner, Frank; König, Arne; del Carmen Boente, María; Enders, Herbert; Fritz, Barbara; Hertl, Michael; Grasshoff, Ute; Höfling, Katja; Oji, Vinzenz; Paradisi, Mauro; Schuchardt, Christian; Szalai, Zsuzsanna; Tadini, Gianluca; Traupe, Heiko; Happle, Rudolf
- Abstract
Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach of (i) genetic mapping of FDH, (ii) high-resolution comparative genome hybridization to seek deletions in candidate chromosome areas and (iii) point mutation analysis in candidate genes, we identified PORCN, encoding a putative O-acyltransferase and potentially crucial for cellular export of Wnt signaling proteins, as the gene mutated in FDH. The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN.
- Publication
Nature genetics, 2007, Vol 39, Issue 7, p833
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng2052