PAX2 gene mutation may contribute to renal-coloboma syndrome (RCS), involving optic nerve colobomas and renal anomalies. Although around 170 cases with PAX2 gene mutation were reported worldwide, precise genetic analysis and its clinical manifestations in this rare syndrome have not been fully described. Methods: To

investigate the incidence of PAX2 gene mutations in cases with RCS, DNA from white blood cells was analyzed for PAX2 mutations by direct sequencing. MG-132 datasheet Moreover, clinical manifestation of RCS cases with or without PAX2 gene mutations was evaluated. Furthermore, family cases with same PAX2 gene mutation was particularly analyzed Results: Twenty-six cases were clinically diagnosed as renal-coloboma syndrome. Eleven cases had PAX2 gene mutations, including four novel mutations. The other fifteen cases were clinically diagnosed renal-coloboma syndrome without PAX2 gene mutation. RCS cases with PAX2 gene mutations had severer kidney dysfunction

and coloboma than those without PAX2 gene mutations. In the kidney, check details 54.5% cases with PAX2 gene mutations were receiving hemodialysis, however,

only 13.3% cases without PAX2 gene mutations were receiving hemodialysis or had a transplanted kidney. In the eye, the score of optic nerve coloboma was significantly higher in RCS cases with PAX2 Methane monooxygenase gene mutations than those without PAX2 gene mutations. These case control study with or without PAX2 gene mutations revealed that PAX2 gene mutations had significant impacts on pathogenesis of RCS. In family analysis, family cases with same PAX2 gene mutation showed different extents of kidney dysfunction and intensity of coloboma among individuals. Even in one individual, intensity of coloboma in right and left was not always same. These particular family case analyses showed that additional factors over PAX2 gene mutations would contribute pathogenesis of RCS. Conclusion: PAX2 gene mutation may be a key abnormality in renal-coloboma syndrome, and may mainly participate in the pathogenesis of kidney and eye abnormality. However, additional other genes and acquired factors would be involved in this syndrome.