RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

  title={RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.},
  author={Margot R F Reijnders and Nurhuda M Ansor and Maria M Kousi and Wyatt W Yue and Perciliz L Tan and Katie E. Clarkson and Jill Clayton-Smith and Ken Corning and Julie R. Jones and Wayne W. K. Lam and Grazia M S Mancini and Carlo L Marcelis and Shehla Mohammed and Rolph Pfundt and Maian Roifman and Ronald D. Cohn and David Chitayat and Tom H. Millard and Nicholas Katsanis and Han G. Brunner and Siddharth Banka},
  journal={American journal of human genetics},
  volume={101 3},
RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous cellular functions essential for normal development. RAC1 is highly conserved across species and is under strict mutational constraint. We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. Four individuals, each harboring one of c.53G>A (p.Cys18Tyr), c.116A>G (p.Asn39Ser), c.218C>T (p.Pro73Leu), and c… CONTINUE READING

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