Research Opportunities:

Most ASXL3 families are eligible to participate in research with Simons VIP!

Research Article Summaries:
We have summarized several research articles below. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • Srivastava et al., 2014Clinical whole exome sequencing in child neurology practice
    78 individuals with developmental delay (DD), intellectual disability (ID), cerebral palsy (CP), or autism (ASD), had whole exome sequencing as part of this study. One individual in the study was identified to have a ASXL3 mutation and was diagnosed with Bainbridge-Ropers syndrome. The child described in this study had some degree of intellectual disability. No developmental regression was observed.

  • Bainbridge et al., 2013 - De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
    This article describes how children with ASXL3 gene changes or (“mutations”) may have similar features to children with Bohring-Opitz syndrome. Bohring-Opitz syndrome is typically caused by mutations in a different gene (ASXL1); it was recently learned that these two genes may have similar roles in growth and development.

    This study compares children who have Bohring-Opitz syndrome and children who have a mutation in ASXL3. Many features are shared between the two genetic conditions including: small size throughout pregnancy (IUGR) and small birth size, feeding difficulties in infancy, slow growth, differences in finger position (may appear to be bent outward, rather than straight), developmental delay with missed milestones, and intellectual disability. One child with an ASXL3 mutation passed away at nine months of age. All four children evaluated had de novo (not inherited from either parent) mutations in the ASXL3 gene.

    There are several features specific to Bohring-Opitz syndrome that were not seen in the four children with ASXL3 mutations, and they are: elbow and wrist flexion problems, vision problems, and early fusion of bones in the skull that cause the head to be shaped differently. None of the four children in the study had these features.

  • Dinwiddie et al., 2013 - De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
    This case report describes a six-year old girl who has an ASXL3 mutation identified through whole exome sequencing. The child also had issues with maintaining her blood sugar levels, however, this was due to a different health problem unrelated to her ASXL3 mutation. Features believed to be associated with her ASXL3 mutation were her speech delay and developmental delays.

    The researchers propose that mutations in the ASXL3 gene are the cause of a newly recognized disorder (called a “syndrome”) characterized by severe global developmental delay, being shorter-than-average (short stature), a smaller-than-average head size (microcephaly), and differences in facial features.

You can also visit SFARI's website to see information written for researchers about this gene. SFARIgene: ASXL3

Back to: Genetic Changes We're Studying