WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

Conclusions
Our case series show that loss-of-function mutations in WAC cause a recognisable genetic syndrome characterised by a neurocognitive phenotype and facial dysmorphism. Our data highly suggest that WAC haploinsufficiency is responsible for most of the phenotypic features associated with deletions encompassing 10p11.23.

Source: Journal of Medical Genetics - October 22, 2015 Category: Genetics & Stem Cells Authors: DeSanto, C., D'Aco, K., Araujo, G. C., Shannon, N., Study, D., Vernon, H., Rahrig, A., Monaghan, K. G., Niu, Z., Vitazka, P., Dodd, J., Tang, S., Manwaring, L., Martir-Negron, A., Schnur, R. E., Juusola, J., Schroeder, A., Pan, V., Helbig, K. L., Friedman Tags: Neurogastroenterology, Eye Diseases, Genetic screening / counselling, Epilepsy and seizures, Dermatology, Epidemiology Phenotypes Source Type: research