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

Susan J. Hassed, 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

Research output: Contribution to journalArticlepeer-review

90 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)391-395
Number of pages5
JournalAmerican Journal of Human Genetics
Issue number2
Publication statusPublished - 2012 Aug 10
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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