The ASXL Family is complete

Since the ASXL2 mutation has been finally discovered, the ASXL Family is complete. This discovery has motivated us to set up the DE NOVO ASXL ASSOCIATION. A cooperation between people who are affected with Bohring-Opitz Syndrome (ASXL1), Bainbridge-Ropers Syndrome (ASXL3) and people with De Novo Variants in ASXL2 gene as well as other related rare mutations in these genes.

Its objective is to maximize the enhanced cooperation through international networking and to promote research as well as to offer exchange information and awareness.

“De Novo ASXL Association” will exist in addition to the already established patients support groups for Bohring-Opitz Syndrome and Bainbridge-Ropers Syndrome.

Bohring-Opitz Syndrome (ASXL1), Bainbridge-Ropers Syndrome (ASXL3) and recently discovered De Novo Variants in ASXL2 gene (with no name yet) are rare phenotypically overlapping syndromes with together less than 70 cases presented in medical articles worldwide.