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Am J Hum Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005.

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

Author information

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. susan-hassed@OUHSC.edu

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.

PMID:
22883147
PMCID:
PMC3415535
DOI:
10.1016/j.ajhg.2012.07.005
[Indexed for MEDLINE]
Free PMC Article

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