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

Am J Med Genet. 2000 Jul 17;93(2):85-8. doi: 10.1002/1096-8628(20000717)93:2<85::aid-ajmg1>;2-b.


The CHARGE syndrome comprises ocular coloboma, heart malformation, choanal atresia, retarded growth and development, central nervous system malformations, genital hypoplasia, ear abnormalities, or deafness. The cause of the CHARGE syndrome remains unknown. In the present study, we analyzed the distribution pattern of the PAX2 gene in human embryos and found that PAX2 gene expression occurs in the primordia affected in the CHARGE syndrome. These data prompted us to consider the PAX2 gene a candidate gene in the CHARGE "association." We analyzed the PAX2 gene in 34 patients fulfilling the diagnostic criteria of the CHARGE syndrome for deletion and nucleotidic variations of the coding sequence and identified only polymorphisms. Our data suggest 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 downstream targets effectors could be candidate genes for the CHARGE syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Central Nervous System / abnormalities
  • Central Nervous System / embryology
  • Coloboma / embryology
  • Coloboma / pathology
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Deafness / embryology
  • Deafness / pathology
  • Ear / abnormalities
  • Ear / embryology
  • Embryo, Mammalian / metabolism*
  • Exons
  • Gene Expression Regulation, Developmental
  • Humans
  • In Situ Hybridization
  • PAX2 Transcription Factor
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Syndrome
  • Transcription Factors / genetics*


  • DNA-Binding Proteins
  • PAX2 Transcription Factor
  • PAX2 protein, human
  • Transcription Factors
  • DNA