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

doi:10.1038/ng2052

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

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	833-835
Number of pages	3
Journal	Nature Genetics
Volume	39
Issue number	7
DOIs	https://doi.org/10.1038/ng2052
Publication status	Published - Jul 2007

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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Grzeschik, K. H., Bornholdt, D., Oeffner, F., König, A., Del Carmen Boente, M., Enders, H., Fritz, B., Hertl, M., Grasshoff, U., Höfling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., & Happle, R. (2007). Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nature Genetics, 39(7), 833-835. https://doi.org/10.1038/ng2052

Grzeschik, KH, Bornholdt, D, Oeffner, F, König, A, Del Carmen Boente, M, Enders, H, Fritz, B, Hertl, M, Grasshoff, U, Höfling, K, Oji, V, Paradisi, M, Schuchardt, C, Szalai, Z, Tadini, G, Traupe, H & Happle, R 2007, 'Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia', Nature Genetics, vol. 39, no. 7, pp. 833-835. https://doi.org/10.1038/ng2052

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

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.",

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doi = "10.1038/ng2052",

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T1 - Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

AU - Grzeschik, Karl Heinz

AU - Bornholdt, Dorothea

AU - Oeffner, Frank

AU - König, Arne

AU - Del Carmen Boente, María

AU - Enders, Herbert

AU - Fritz, Barbara

AU - Hertl, Michael

AU - Grasshoff, Ute

AU - Höfling, Katja

AU - Oji, Vinzenz

AU - Paradisi, Mauro

AU - Schuchardt, Christian

AU - Szalai, Zsuzsanna

AU - Tadini, Gianluca

AU - Traupe, Heiko

AU - Happle, Rudolf

PY - 2007/7

Y1 - 2007/7

N2 - 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.

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

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