Friday 25 April 2008
The oculo-auricular syndrome is characterized by ophthalmic anomalies (microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy) and a particular cleft ear lobule.
NKX5-3 gene germline mutations
Morpholino knockdown expression of the zebrafish nkx5-3 induced microphthalmia and disorganization of the developing retina, thus confirming that this gene represents an additional member implicated in axial patterning of the retina.
Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL. Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome. Am J Hum Genet. 2008 Apr 16. PMID: 18423520