JOURNAL ARTICLE

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

Karl-Heinz Grzeschik, Dorothea Bornholdt, Frank Oeffner, Arne König, María del Carmen Boente, Herbert Enders, Barbara Fritz, Michael Hertl, Ute Grasshoff, Katja Höfling, Vinzenz Oji, Mauro Paradisi, Christian Schuchardt, Zsuzsanna Szalai, Gianluca Tadini, Heiko Traupe, Rudolf Happle
Nature Genetics 2007, 39 (7): 833-5
17546031
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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