2. Academic Validation
  3. RBPJ mutations identified in two families affected by Adams-Oliver syndrome

RBPJ mutations identified in two families affected by Adams-Oliver syndrome

  • Am J Hum Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005.
Susan J Hassed 1,  Graham B Wiley,  Shaofeng Wang,  Ji-Yun Lee,  Shibo Li,  Weihong Xu,  Zhizhuang J Zhao,  John J Mulvihill,  James Robertson,  James Warner,  Patrick M Gaffney
Affiliations

Affiliation

  • 1 Department of Pediatrics, University of Oklahoma Health Sciences Center, University of Oklahoma Children's Physicians Building, 1200 Children's Avenue, Oklahoma City, OK 73104, USA. [email protected]
PMID: 22883147 DOI: 10.1016/j.ajhg.2012.07.005
Abstract

Through exome resequencing, we identified two unique mutations in recombination signal binding protein for immunoglobulin kappa J (RBPJ) in two independent families affected by Adams-Oliver syndrome (AOS), a rare multiple-malformation disorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal limb defects. These identified mutations link RBPJ, the primary transcriptional regulator for the Notch pathway, with AOS, a human genetic disorder. Functional assays confirmed impaired DNA binding of mutated RBPJ, placing it among other notch-pathway proteins altered in human genetic syndromes.

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