AKT signaling contributes to neural crest cells migration in patients affected with Bosma Arhinia and Microphtalmia syndrome.

To gain further insights into the specificity of SMCHD1 mutations and identify pathways associated with the disease phenotypes, we have derived induced pluripotent stem cells from patients affected with BAMS or FSHD. We then differentiated these cells into neural crest stem cells, corresponding to the cell type that is mainly affected in BAMS and analyzed their transcriptome by RNA Seq. Patients affected with Bosma Arhinia and Microphtalmia syndrome