COMM Domain Containing Protein 9 (COMMD9)

By searching for genes in a region of chromosome 11 associated with WAGR syndrome, Gawin et al. (1999) identified and cloned COMMD9, which they designated clone 41188. Northern blot analysis detected robust expression of a 1.5-kb transcript in all human tissues examined. In mouse, expression was strong in all adult tissues and at all embryonic stages examined. Kawase et al. (2001) reported a case of WAGR syndrome with atypical eye findings. The boy presented at 1 month of age with microphthalmos bilaterally, microcornea and corneal cyst in the right eye, and corneal opacity (consistent with Peters anomaly) and absent anterior chamber in the left eye. Electroretinogram was normal in the right eye and subnormal in the left eye, suggesting retinal dysfunction.