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, Z. Szalai, Gianluca Tadini, Heiko Traupe, Rudolf Happle

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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 languageEnglish
Pages (from-to)833-835
Number of pages3
JournalNature Genetics
Volume39
Issue number7
DOIs
Publication statusPublished - Jul 2007

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Focal Dermal Hypoplasia
Wnt Proteins
Acyltransferases
Comparative Genomic Hybridization
Genetic Association Studies
Point Mutation
Chromosomes
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Grzeschik, K. H., Bornholdt, D., Oeffner, F., König, A., Del Carmen Boente, M., Enders, 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

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. / 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, Z.; Tadini, Gianluca; Traupe, Heiko; Happle, Rudolf.

In: Nature Genetics, Vol. 39, No. 7, 07.2007, p. 833-835.

Research output: Contribution to journalArticle

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
Grzeschik KH, Bornholdt D, Oeffner F, König A, Del Carmen Boente M, Enders H et al. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nature Genetics. 2007 Jul;39(7):833-835. https://doi.org/10.1038/ng2052
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, Z. ; Tadini, Gianluca ; Traupe, Heiko ; Happle, Rudolf. / Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. In: Nature Genetics. 2007 ; Vol. 39, No. 7. pp. 833-835.
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