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Expanding our knowledge of conditions associated with the ASXL gene family

Bianca Russell1 and John M Graham2*

Author Affiliations

1 Medical Genetics, University of California, Irvine, 101 The City Drive South, Orange, CA 92868, United States

2 Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, 8700 Beverly Blvd, PACT Suite 400, Los Angeles, CA 90048, United States

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Genome Medicine 2013, 5:16  doi:10.1186/gm420

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Published: 21 February 2013


Genome-wide sequencing has identified de novo truncating mutations in ASXL3 in four patients with intellectual disability, feeding problems and distinctive facial features. Their presentation resembles that of Bohring-Opitz syndrome, which is associated with de novo nonsense mutations in ASXL1. This newly defined phenotype provides an important clinical resource for comparison with future cases in which mutations are found in ASXL3. The phenotypes for patients with mutations in each gene will undoubtedly be further delineated as more patients are reported.