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Am J Hum Genet. 2008 Jan;82(1):39-47. doi: 10.1016/j.ajhg.2007.08.005.

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

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  • 1Metabolic Disease Unit, Meyer Children's Hospital, Haifa 31096, Israel.

Abstract

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-dependent inhibition of beta-catenin degradation. Taken together with previous observations in animal models, the present data attribute a pivotal role to WNT4 signaling during organogenesis in humans.

PMID:
18179883
[PubMed - indexed for MEDLINE]
PMCID:
PMC2253972
Free PMC Article

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