Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia by 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 in Nature genetics (2007).

[PMID: 17546031] PubMed


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.

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