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.
Highlights
Genome-wide sequencing has identified de novo truncating mutations in ASXL3 in four patients with intellectual disability, feeding problems and distinctive facial features
After identifying mutations in ASXL3 in these four patients, Bainbridge et al used several large datasets to look for previously reported ASXL3 mutations
The results of their analysis show that this probability is approximately 4.0 × 1017. This makes it highly unlikely that these changes occurred by chance, but functional studies are still required to confirm the pathological nature of these ASXL3 mutations [1]
Summary
Genome-wide sequencing has identified de novo truncating mutations in ASXL3 in four patients with intellectual disability, feeding problems and distinctive facial features. Other similar cases can be tested, and gene variants discovered through whole genome or exome sequencing can be compared with the previously published phenotype to define the relevant clinical features further.
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