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

By K. Grzeschik, D. Bornholdt, F. Oeffner, A. König, M. Boente, H. Enders, B. Fritz, M. Hertl, U. Grasshoff, K. Höfling and 7 more. 2007

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Structural basis of WLS/Evi-mediated Wnt transport and secretion (2020, background): “Loss of function mutations in PORCN, an X-linked gene, are lethal in males (Grzeschik et al., 2007; Wang et al., 2007), while drugs that inhibit PORCN are effective treatment for Wnt-addicted cancers in preclinical models and are currently in ongoing clinical trials (Zhong and Virshup, 2020).”
Wnt/β-catenin signaling and disease. (2012, unknown): “This disease is characterized by skin abnormalities and other developmental defects (Grzeschik et al., 2007; Wang et al., 2007).”
Precise Regulation of Porcupine Activity Is Required for Physiological Wnt Signaling (2012, background): “Analysis of PORCNMutations Associated with FDH—Inherited and postzygotic mutations in the PORCN gene cause the disorder focal dermal hypoplasia (33, 34).”
Structural model of PORCN illuminates disease-associated variants and drug binding sites (2021, unknown): “Among those, diverse germ line mutations in PORCN are associated with Goltz syndrome, an X-linked genetic disorder also known as focal dermal hypoplasia (FDH; OMIM 305600) (Bostwick et al., 2016; Goltz, 1992; Grzeschik et al., 2007; Wang et al., 2007).”