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oculo-auricular syndrome

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.

Etiology

- 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.

References

- 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#