Sorry to blow my own horn but I’m quite passionate about the findings described below. Late last year, the group of Clayton-Smith et al. identified mutations in KAT6B in Ohdo syndrome, a condition characterized by blepharophimosis and developmental delay.
Shortly after, our group and the group of Simpson et al. identified mutations in the same gene in Genitopatellar syndrome, characterized by genital and patellar anomalies.
The developmental roles of this histone acetyltransferase are only beginning to be understood but it seems quite important for neurogenesis and skeletal development. The genotype-phenotype correlations are also fascinating. Both conditions are caused by de novo truncating mutations. While there is clinical overlap between the two conditions, there are also many differences, and there seems to be a clustering of the mutations which cause Genitopatellar syndrome. We are currently exploring the correlations and the impact of the mutations on the protein.
Posted by Philippe Campeau, MD