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Updated: May 11, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Expanding our knowledge of conditions associated with the ASXL gene family
Bianca Russell1, John M Graham2
1Medical Genetics, University of California, Irvine, 101 The City Drive South, Orange, CA 92868, United States.
Abstract:
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.
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