All articles filed in Inherity

We have learned that  germline mutations of human ASXL1 is the cause of Bohring-Opitz  syndrome (BOS). Germline means its a novo ASXL1 mutation, the gene mutates at conception, creating a developmental disorder that leads to BOS. Patients with somatic ASXL1 mutation (the mutation formed during later life) have an increased risk of myelodysplasia (MDS), myeloproliferative…