AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.

  title={AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.},
  author={Monica L. Marvin and Serina M. Mazzoni and Casey M. Herron and Sean Edwards and Stephen B. Gruber and Elizabeth M. Petty},
  journal={American journal of medical genetics. Part A},
  volume={155A 4},
We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers. This novel mutation predicts p.Trp663X, which is a truncated protein that is missing the last three exons, including the DIX (Disheveled and AXIN interacting) domain. This… CONTINUE READING
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