Orthodenticle Homeobox 2 (OTX2) is a bicoid-type, homeodomain-containing gene that is the vertebrate ortholog of the Drosophila gene orthodenticle.
OTX2, localized in the 14q22.3, is a 3 coding exons gene encoding for a homeobox protein that acts as a transcription factor involved in the development of brain, ocular and craniofacial structures.
Mutations in OTX2 can be identified using targeted or genome-wide sequencing technology.
Various mutations of different nature have been detected: missense, nonsense, frameshift, splice site, whole or partial gene deletion and responsible for isolated or syndromic M/A, craniofacial malformative features (Agnathia-otocephaly complex) as well as hypopituitarism.
OTX2 gene duplication seems to be associated with OAV spectrum
OTX2