ASXL3

Molecular characteristics

Molecular mechanism
Bainbridge-Ropers Syndrome is caused by dominant truncating mutations in ASXL3 that result in loss-of-function alleles. This loss of function mutation alters histone ubiquitination. These mutations likely arise post-zygotically or during later embryogenesis.

Genetic testing
Sequencing analysis of the ASXL3 gene found on chromosome 18.