OTX2 gene encodes for a protein that is involved in the early development of the embryo and whose activity is crucial for the formation of the eyes, the brain and the craniofacial structures.
Many mutations of different nature can affect the expression of this gene and lead to a phenotype that variably associates ocular, brain and craniofacial malformations. These OTX2 mutations can be identified using classic or new sequencing technologies on genomic DNA most often obtained from a simple blood sample in the patient.
OTX2