Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome

The CHARGE syndrome comprises ocular coloboma, heart malformation, choanal atresia, retarded growth and development, central nervous system malformati ons, genital hypoplasia, ear abnormalities, or deafness. The cause of the C HARGE syndrome remains unknown. In the present study, we analyzed the distr ibution pattern of the PAX2 gene in human embryos and found that PAX2 gene expression occurs in the primordia affected in the CHARGE syndrome. These d ata prompted us to consider the PAX2 gene a candidate gene in the CHARGE "a ssociation." We analyzed the PAX2 gene in 34 patients fulfilling the diagno stic criteria of the CHARGE syndrome for deletion and nucleotidic variation s of the coding sequence and identified only polymorphisms. Our data sugges t that mutation of the PAX2 gene is not a cause of the CHARGE association, However, the pattern of expression of PAX2 suggests that genes encoding dow nstream targets effecters could be candidate genes for the CHARGE syndrome, (C) 2000 Wiley-Liss, Inc.