Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
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DOI：
10.1038/ng2052
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发表时间：
2007-07-01
期刊：
影响因子：
30.8
通讯作者：
Happle, Rudolf
中科院分区：
文献类型：
--
作者：
Grzeschik, Karl-Heinz;Bornholdt, Dorothea;Happle, Rudolf
局灶性真皮发育不全（FDH）是一种影响外胚层和中胚层起源组织的X连锁显性多系统出生缺陷。利用(i) FDH遗传图谱的逐步方法，（ii）高分辨率比较基因组杂交寻找候选染色体区域的缺失，（iii）候选基因的点突变分析，我们确定了PORCN，编码一种假定的O-酰基转移酶，可能对Wnt信号蛋白的细胞输出至关重要，因为该基因在FDH中发生突变。研究结果表明，FDH是一种由PORCN缺乏引起的发育障碍。
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.