[HTML][HTML] Expanding our knowledge of conditions associated with the ASXL gene family
B Russell, JM Graham - Genome medicine, 2013 - Springer
B Russell, JM Graham
Genome medicine, 2013•SpringerGenome-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 …
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 …
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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