Elucidating the genetic heterogeneity of Zimmermann-Laband syndrome

Zimmermann-Laband syndrome is a rare developmental disorder characterized by facial dysmorphism, nail aplasia or hypoplasia, hypertrichosis, and intellectual disability with or without epilepsy. ZLS causative genes have been recently identified highlighting the role of potassium channels and of the vacuolar ATPase in the pathogenesis of this disorder. Genetic evidence points to a genetically heterogeneity for ZLS, indicating that additional unknown genes are involved. This project aims at identifying the "missing" disease genes underlying ZLS in a selected panel of clinically well-characterized ZLS patients using high throughput sequencing strategies of the exome, i.e., the protein-coding portion of the genome. Our understanding of the molecular events underlying this condition will provide new tools for diagnosis of this rare disorder, with direct impact on diagnosis, prognosis, counseling, and patient management