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Human  PITX2  mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects, dental hypoplasia, craniofacial dysmorphism and umbilical abnormalities. Characterization of the  PITX2  pathway and identification of the mechanisms underlying the anomalies associated with  PITX2  deficiency is important for better understanding of normal development and disease; studies of  pitx2  function in animal models can facilitate these analyses. A knockdown of  pitx2  in zebrafish was generated using a morpholino that targeted all known alternative transcripts of the  pitx2  gene; morphant embryos generated with the  pitx2 ex4/5   splicing-blocking oligomer produced abnormal transcripts predicted to encode truncated pitx2 proteins lacking the third (recognition) helix of the DNA-binding homeodomain. The morphological phenotype of  pitx2 ex4/5   morphants included small head and eyes, jaw abnormalities and pericardial edema; lethality was observed at ∼6–8-dpf. Cartilage staining revealed a reduction in size and an abnormal shape/position of the elements of the mandibular and hyoid pharyngeal arches; the ceratobranchial arches were also decreased in size. Histological and marker analyses of the misshapen eyes of the  pitx2 ex4/5   morphants identified anterior segment dysgenesis and disordered hyaloid vasculature. In summary, we demonstrate that  pitx2  is essential for proper eye and craniofacial development in zebrafish and, therefore, that  PITX2/pitx2  function is conserved in vertebrates.

pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish