This technology describes a brain-specific OCRL1 mutant transcript that will be further studied to elucidate neuron-specific functions of the gene.
The OCRL1 gene, located on the X chromosome, encodes an inositol polyphosphate-5-phosphatase. This protein is involved in membrane adhesion and trafficking, and is required for primary cilia formation. Mutations in the OCRL1 gene have been identified in patients with Lowe syndrome who exhibit symptoms including short stature, congenital cataracts, cognitive and behavioral impairment, and renal tubulopathy, but these mutant variants have not been well characterized.
The variant described by this technology was identified in a patient exhibiting short stature and neurological features, but no eye or kidney disease, suggesting a brain-specific functional effect. Exploration of this variant using in-vitro and in-vivo models will help elucidate the mechanism underlying the endocrinological and neurological features of the disease, as well as the neuronal function of OCRL1. As such, this work may uncover potential targets for future treatment development.
Patent Pending
IR CU22138
Licensing Contact: Sara Gusik