TY - JOUR
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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U2 - 10.1038/ng2052
DO - 10.1038/ng2052
M3 - Article
C2 - 17546031
AN - SCOPUS:34347326153
VL - 39
SP - 833
EP - 835
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 7
ER -