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SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4 总被引:1,自引:0,他引:1
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Mandel H Shemer R Borochowitz ZU Okopnik M Knopf C Indelman M Drugan A Tiosano D Gershoni-Baruch R Choder M Sprecher E 《American journal of human genetics》2008,82(1):39-47
The WNT-signaling pathway plays a major role during mammalian embryogenesis. We report a novel autosomal-recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. Using a candidate-gene approach, we identified a disease-causing homozygous missense mutation in the human WNT4 gene. The mutation was found to result in markedly reduced WNT4 mRNA levels in vivo and in vitro and to downregulate WNT4-dependant inhibition of β-catenin degradation. Taken together with previous observations in animal models, the present data attribute a pivotal role to WNT4 signaling during organogenesis in humans. 相似文献